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26 Apr 2022	Mendeliome v0.13301	CHN1	Ain Roesley reviewed gene: CHN1: 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: 20301369; Phenotypes: Duane retraction syndrome 2,MIM#604356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13301	CHMP4B	Ain Roesley Gene: chmp4b has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13301	CHMP4B	Ain Roesley Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387
26 Apr 2022	Mendeliome v0.13300	CHMP4B	Ain Roesley Publications for gene: CHMP4B were set to
26 Apr 2022	Mendeliome v0.13300	CHMP4B	Ain Roesley Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2022	Mendeliome v0.13299	CHMP4B	Ain Roesley reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13299	CHM	Ain Roesley Gene: chm has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13299	CHM	Ain Roesley Publications for gene: CHM were set to
26 Apr 2022	Mendeliome v0.13299	CHM	Ain Roesley Phenotypes for gene: CHM were changed from to Choroideremia MIM#303100
26 Apr 2022	Mendeliome v0.13299	CHM	Ain Roesley Mode of inheritance for gene: CHM 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)
26 Apr 2022	Mendeliome v0.13298	CHM	Ain Roesley reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301511; Phenotypes: Choroideremia MIM#303100; 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
26 Apr 2022	Mendeliome v0.13298	CHIT1	Ain Roesley Phenotypes for gene: CHIT1 were changed from [Chitotriosidase deficiency] MIM#614122 to [Chitotriosidase deficiency] MIM#614122
26 Apr 2022	Mendeliome v0.13298	CHIT1	Ain Roesley Publications for gene: CHIT1 were set to
26 Apr 2022	Mendeliome v0.13297	CHIT1	Ain Roesley Phenotypes for gene: CHIT1 were changed from to [Chitotriosidase deficiency] MIM#614122
26 Apr 2022	Mendeliome v0.13297	CHIT1	Ain Roesley Marked gene: CHIT1 as ready
26 Apr 2022	Mendeliome v0.13297	CHIT1	Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
26 Apr 2022	Mendeliome v0.13297	CHIT1	Ain Roesley Classified gene: CHIT1 as Red List (low evidence)
26 Apr 2022	Mendeliome v0.13297	CHIT1	Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
26 Apr 2022	Mendeliome v0.13297	PDGFRA	Krithika Murali changed review comment from: ?Suitability for Incidentalome versus Mendeliome based on adult age of diagnosis in reported cases. --- Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility. --- PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006. PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues. PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease. PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported. PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35. PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease. -- Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.; to: Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility. --- PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006. PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues. PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease. PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported. PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35. PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease. -- Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.
26 Apr 2022	Mendeliome v0.13296	CHIT1	Ain Roesley reviewed gene: CHIT1: Rating: RED; Mode of pathogenicity: None; Publications: 23430794; Phenotypes: [Chitotriosidase deficiency] MIM#614122; Mode of inheritance: None; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13296	CHD1	Ain Roesley Gene: chd1 has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13296	CHD1	Ain Roesley Phenotypes for gene: CHD1 were changed from to Pilarowski-Bjornsson syndrome, MIM#617682
26 Apr 2022	Mendeliome v0.13296	CHD1	Ain Roesley Publications for gene: CHD1 were set to
26 Apr 2022	Mendeliome v0.13295	CHD1	Ain Roesley Mode of pathogenicity for gene: CHD1 was changed from to Other
26 Apr 2022	Mendeliome v0.13295	CHD1	Ain Roesley Mode of inheritance for gene: CHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2022	Mendeliome v0.13294	CHD1	Ain Roesley edited their review of gene: CHD1: Changed mode of pathogenicity: Other
26 Apr 2022	Mendeliome v0.13294	CHD1	Ain Roesley reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28866611; Phenotypes: Pilarowski-Bjornsson syndrome, MIM#617682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13294	CFP	Ain Roesley Gene: cfp has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13294	CFP	Ain Roesley Phenotypes for gene: CFP were changed from to Properdin deficiency, X-linked MIM#312060
26 Apr 2022	Mendeliome v0.13293	CFP	Ain Roesley Publications for gene: CFP were set to
26 Apr 2022	Mendeliome v0.13293	CFP	Ain Roesley Mode of inheritance for gene: CFP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Apr 2022	Mendeliome v0.13292	CFP	Ain Roesley reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 8871668, 10909851, 22229731, 9476131, 10698340, 10540191, 16511390, 19328743; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13292	PDGFRA	Krithika Murali reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14699510, 17087943, 25975287, 29486293, 33449152, 34107389, 17566086, 18670346; Phenotypes: Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2022	Mendeliome v0.13292	CFI	Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13292	CFI	Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
26 Apr 2022	Mendeliome v0.13292	CFI	Ain Roesley Phenotypes for gene: CFI were changed from to Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923
26 Apr 2022	Mendeliome v0.13291	CFI	Ain Roesley Publications for gene: CFI were set to
26 Apr 2022	Mendeliome v0.13290	CFI	Ain Roesley Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Apr 2022	Mendeliome v0.13289	CFI	Ain Roesley reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 29292855, 28942469, 27091480, 20301541; Phenotypes: Complement factor I deficiency MIM#610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13289	RSPH3	Belinda Chong reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
26 Apr 2022	Mendeliome v0.13289	HSPG2	Zornitza Stark changed review comment from: Allelic disorders with some phenotypic overlap. Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported. Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported.; to: Allelic disorders with some phenotypic overlap. Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported. Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported. Appears associated with null variants.
25 Apr 2022	Mendeliome v0.13289	PKD1	Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13289	PKD1	Zornitza Stark Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900
25 Apr 2022	Mendeliome v0.13288	PKD1	Zornitza Stark Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13287	PKD1	Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13287	PKD2	Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13287	PKD2	Zornitza Stark Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM# 613095
25 Apr 2022	Mendeliome v0.13286	PKD2	Zornitza Stark Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13285	PKD2	Zornitza Stark reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, MIM# 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13285	PKLR	Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13285	PKLR	Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate kinase deficiency, MIM# 266200; Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900
25 Apr 2022	Mendeliome v0.13284	PKLR	Zornitza Stark Publications for gene: PKLR were set to
25 Apr 2022	Mendeliome v0.13283	PKLR	Zornitza Stark Mode of inheritance for gene: PKLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13282	PKLR	Zornitza Stark reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535; Phenotypes: Pyruvate kinase deficiency, MIM# 266200, Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13282	PKP1	Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13282	PKP1	Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
25 Apr 2022	Mendeliome v0.13281	PKP1	Zornitza Stark Publications for gene: PKP1 were set to
25 Apr 2022	Mendeliome v0.13280	PKP1	Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13279	PKP1	Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13279	PLA2G5	Zornitza Stark Gene: pla2g5 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13279	PLA2G5	Zornitza Stark Phenotypes for gene: PLA2G5 were changed from to [Fleck retina, familial benign], MIM# 228980
25 Apr 2022	Mendeliome v0.13278	PLA2G5	Zornitza Stark Publications for gene: PLA2G5 were set to
25 Apr 2022	Mendeliome v0.13277	PLA2G5	Zornitza Stark Mode of inheritance for gene: PLA2G5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13276	PLA2G5	Zornitza Stark reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13276	PLCE1	Zornitza Stark Gene: plce1 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13276	PLCE1	Zornitza Stark Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725
25 Apr 2022	Mendeliome v0.13275	PLCE1	Zornitza Stark Publications for gene: PLCE1 were set to
25 Apr 2022	Mendeliome v0.13274	PLCE1	Zornitza Stark Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13273	PLCE1	Zornitza Stark reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13273	PLCG2	Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13273	PLCG2	Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
25 Apr 2022	Mendeliome v0.13272	PLCG2	Zornitza Stark Publications for gene: PLCG2 were set to
25 Apr 2022	Mendeliome v0.13271	PLCG2	Zornitza Stark Mode of pathogenicity for gene: PLCG2 was changed from to Other
25 Apr 2022	Mendeliome v0.13270	PLCG2	Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13269	PLEKHM1	Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from Osteopetrosis, autosomal dominant 3, MIM# 618107 to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497
25 Apr 2022	Mendeliome v0.13268	PLEKHM1	Zornitza Stark Publications for gene: PLEKHM1 were set to 27291868; 21054159; 17997709; 17404618
25 Apr 2022	Mendeliome v0.13267	PLEKHM1	Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13266	PLEKHM1	Zornitza Stark changed review comment from: Three individuals reported with mono allelic variants, and one with bi-allelic. Animal model.; to: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.
25 Apr 2022	Mendeliome v0.13266	PLEKHM1	Zornitza Stark edited their review of gene: PLEKHM1: Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25 Apr 2022	Mendeliome v0.13266	PLEKHM1	Zornitza Stark Gene: plekhm1 has been classified as Green List (High Evidence).
25 Apr 2022	Mendeliome v0.13266	PLEKHM1	Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107
25 Apr 2022	Mendeliome v0.13265	PLEKHM1	Zornitza Stark Publications for gene: PLEKHM1 were set to
25 Apr 2022	Mendeliome v0.13264	PLEKHM1	Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13263	PLEKHM1	Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2022	Mendeliome v0.13263	RSPH4A	Belinda Chong edited their review of gene: RSPH4A: Changed publications: 23798057, 23798057, 23798057, 25789548, 22448264
25 Apr 2022	Mendeliome v0.13263	RSPH4A	Belinda Chong changed review comment from: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523) 9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)): - In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene. - In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene - Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD. Common founder mutation: - Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry. Multiple individuals in ClinVar with primary ciliary dyskinesia; to: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523) 9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)): - In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene. - In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene - Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD. Common founder mutation: - Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry. Multiple individuals in ClinVar with primary ciliary dyskinesia PMID: 25789548; Frommer 2015: 8 PCD families reported, only 4 different variants identified. Functional studies performed. PMID: 22448264; Ziętkiewicz 2012: 4 additional families/variants reported.
25 Apr 2022	Mendeliome v0.13263	RSPH4A	Belinda Chong reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
25 Apr 2022	Mendeliome v0.13263	RSPH9	Belinda Chong reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
24 Apr 2022	Mendeliome v0.13263	PLN	Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13263	PLN	Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18 (MIM #613874)
24 Apr 2022	Mendeliome v0.13262	PLN	Zornitza Stark Publications for gene: PLN were set to
24 Apr 2022	Mendeliome v0.13261	PLN	Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13260	PLN	Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18 (MIM #613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13260	PLOD1	Zornitza Stark edited their review of gene: PLOD1: Changed phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
24 Apr 2022	Mendeliome v0.13260	PLOD1	Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13260	PLOD1	Zornitza Stark Phenotypes for gene: PLOD1 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400
24 Apr 2022	Mendeliome v0.13259	PLOD1	Zornitza Stark Publications for gene: PLOD1 were set to
24 Apr 2022	Mendeliome v0.13258	PLOD1	Zornitza Stark Mode of inheritance for gene: PLOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13257	PLOD1	Zornitza Stark reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306225; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1.<O<# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13257	PLOD2	Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13257	PLOD2	Zornitza Stark Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220
24 Apr 2022	Mendeliome v0.13256	PLOD2	Zornitza Stark Publications for gene: PLOD2 were set to
24 Apr 2022	Mendeliome v0.13255	PLOD2	Zornitza Stark Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13254	PLOD2	Zornitza Stark reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13254	PMFBP1	Zornitza Stark Gene: pmfbp1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13254	PMFBP1	Zornitza Stark Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394
24 Apr 2022	Mendeliome v0.13253	PMFBP1	Zornitza Stark Publications for gene: PMFBP1 were set to
24 Apr 2022	Mendeliome v0.13252	PMFBP1	Zornitza Stark Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13251	PMFBP1	Zornitza Stark reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33484382, 33452591, 32285443; Phenotypes: Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13251	PMPCA	Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13251	PMPCA	Zornitza Stark Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
24 Apr 2022	Mendeliome v0.13250	PMPCA	Zornitza Stark Publications for gene: PMPCA were set to
24 Apr 2022	Mendeliome v0.13249	PMPCA	Zornitza Stark Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13248	PMPCA	Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13248	PMPCB	Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13248	PMPCB	Zornitza Stark Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
24 Apr 2022	Mendeliome v0.13247	PMPCB	Zornitza Stark Publications for gene: PMPCB were set to
24 Apr 2022	Mendeliome v0.13246	PMPCB	Zornitza Stark Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13245	PMPCB	Zornitza Stark changed review comment from: Progressive disorder, includes ataxia. Four unrelated families reported.; to: Progressive disorder. Four unrelated families reported.
24 Apr 2022	Mendeliome v0.13245	PNPO	Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13245	PNPO	Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
24 Apr 2022	Mendeliome v0.13244	PNPO	Zornitza Stark Publications for gene: PNPO were set to
24 Apr 2022	Mendeliome v0.13243	PNPO	Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13242	PNPO	Zornitza Stark reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443, 33981986, 33748042, 32888189; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13242	PODXL	Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13242	PODXL	Zornitza Stark Phenotypes for gene: PODXL were changed from to Nephrotic syndrome, MONDO:0005377, PODXL-related
24 Apr 2022	Mendeliome v0.13241	PODXL	Zornitza Stark Publications for gene: PODXL were set to
24 Apr 2022	Mendeliome v0.13240	PODXL	Zornitza Stark Mode of inheritance for gene: PODXL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13239	PODXL	Zornitza Stark reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30523047, 29244787, 28117080, 24048372; Phenotypes: Nephrotic syndrome, MONDO:0005377, PODXL-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13239	POFUT1	Zornitza Stark Marked gene: POFUT1 as ready
24 Apr 2022	Mendeliome v0.13239	POFUT1	Zornitza Stark Gene: pofut1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13239	POFUT1	Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
24 Apr 2022	Mendeliome v0.13238	POFUT1	Zornitza Stark Publications for gene: POFUT1 were set to
24 Apr 2022	Mendeliome v0.13237	POFUT1	Zornitza Stark Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13236	POLG	Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13236	POLG	Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640
24 Apr 2022	Mendeliome v0.13235	POLG	Zornitza Stark Publications for gene: POLG were set to
24 Apr 2022	Mendeliome v0.13234	POLG	Zornitza Stark commented on gene: POLG: Reviewed in PMID 30451971
24 Apr 2022	Mendeliome v0.13234	POLG	Zornitza Stark edited their review of gene: POLG: Changed publications: 30451971
24 Apr 2022	Mendeliome v0.13234	POLG	Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13233	POLG	Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13233	POMGNT1	Zornitza Stark Marked gene: POMGNT1 as ready
24 Apr 2022	Mendeliome v0.13233	POMGNT1	Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13233	POMGNT1	Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123
24 Apr 2022	Mendeliome v0.13232	POMGNT1	Zornitza Stark Publications for gene: POMGNT1 were set to
24 Apr 2022	Mendeliome v0.13231	POMGNT1	Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13230	POMGNT1	Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613, 30961548, 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13230	POMGNT2	Zornitza Stark Marked gene: POMGNT2 as ready
24 Apr 2022	Mendeliome v0.13230	POMGNT2	Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13230	POMGNT2	Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135
24 Apr 2022	Mendeliome v0.13229	POMGNT2	Zornitza Stark Publications for gene: POMGNT2 were set to
24 Apr 2022	Mendeliome v0.13228	POMGNT2	Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13227	POMGNT2	Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34301702, 27066570, 26060116, 22958903; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13227	POMK	Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13227	POMK	Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
24 Apr 2022	Mendeliome v0.13226	POMK	Zornitza Stark Publications for gene: POMK were set to
24 Apr 2022	Mendeliome v0.13225	POMK	Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13224	POMK	Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13224	RAX2	Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13224	RAX2	Zornitza Stark Phenotypes for gene: RAX2 were changed from to Cone-rod dystrophy 11, MIM# 610381
24 Apr 2022	Mendeliome v0.13223	RAX2	Zornitza Stark Publications for gene: RAX2 were set to
24 Apr 2022	Mendeliome v0.13222	RAX2	Zornitza Stark Mode of inheritance for gene: RAX2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13221	RAX2	Zornitza Stark reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13221	RASA1	Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13221	DNAJB11	Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155; 33129895
24 Apr 2022	Mendeliome v0.13220	PDX1	Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13220	PDX1	Zornitza Stark Phenotypes for gene: PDX1 were changed from to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)
24 Apr 2022	Mendeliome v0.13219	PDX1	Zornitza Stark Publications for gene: PDX1 were set to
24 Apr 2022	Mendeliome v0.13218	PDX1	Zornitza Stark Mode of inheritance for gene: PDX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13217	PDX1	Zornitza Stark Mode of inheritance for gene: PDX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13216	PDP1	Zornitza Stark Publications for gene: PDP1 were set to 15855260
24 Apr 2022	Mendeliome v0.13215	PDP1	Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392110, 19184109, 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13215	PDP1	Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13215	PDP1	Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
24 Apr 2022	Mendeliome v0.13214	PDP1	Zornitza Stark Publications for gene: PDP1 were set to
24 Apr 2022	Mendeliome v0.13213	PDP1	Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13212	PDHB	Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13212	PDHB	Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111
24 Apr 2022	Mendeliome v0.13211	PDHB	Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13210	RSPO1	Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13210	RSPO1	Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
24 Apr 2022	Mendeliome v0.13209	RSPO1	Zornitza Stark Publications for gene: RSPO1 were set to
24 Apr 2022	Mendeliome v0.13208	RSPO1	Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13207	FBRSL1	Zornitza Stark Phenotypes for gene: FBRSL1 were changed from syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome to syndromic disease MONDO:0002254, FBRSL1-related; Malformation and intellectual disability syndrome
24 Apr 2022	Mendeliome v0.13206	FAT1	Zornitza Stark Phenotypes for gene: FAT1 were changed from syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
24 Apr 2022	Mendeliome v0.13205	FAT1	Zornitza Stark reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254, FAT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13205	FASTKD2	Zornitza Stark Phenotypes for gene: FASTKD2 were changed from FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
24 Apr 2022	Mendeliome v0.13204	FASTKD2	Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13203	PDHA1	Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13203	PDHA1	Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
24 Apr 2022	Mendeliome v0.13202	PDHA1	Zornitza Stark Publications for gene: PDHA1 were set to
24 Apr 2022	Mendeliome v0.13201	PDHA1	Zornitza Stark Mode of inheritance for gene: PDHA1 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)
24 Apr 2022	Mendeliome v0.13200	FAS	Zornitza Stark edited their review of gene: FAS: Changed phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13200	FAS	Zornitza Stark reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
24 Apr 2022	Mendeliome v0.13200	PDE6H	Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13200	PDE6H	Zornitza Stark Phenotypes for gene: PDE6H were changed from to Achromatopsia 6 - MIM#610024
24 Apr 2022	Mendeliome v0.13199	PDE6H	Zornitza Stark Publications for gene: PDE6H were set to
24 Apr 2022	Mendeliome v0.13198	PDE6H	Zornitza Stark Mode of inheritance for gene: PDE6H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13197	PDE6G	Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
24 Apr 2022	Mendeliome v0.13197	PDE6G	Zornitza Stark Phenotypes for gene: PDE6G were changed from to Retinitis pigmentosa 57 - MIM#613582
24 Apr 2022	Mendeliome v0.13196	PDE6G	Zornitza Stark Publications for gene: PDE6G were set to
24 Apr 2022	Mendeliome v0.13195	PDE6G	Zornitza Stark Mode of inheritance for gene: PDE6G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13194	PDE6G	Zornitza Stark Classified gene: PDE6G as Amber List (moderate evidence)
24 Apr 2022	Mendeliome v0.13194	PDE6G	Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
24 Apr 2022	Mendeliome v0.13193	PDE6C	Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13193	PDE6C	Zornitza Stark Phenotypes for gene: PDE6C were changed from to Cone dystrophy 4, MIM# 613093; Achromatopsia-5
24 Apr 2022	Mendeliome v0.13192	PDE6C	Zornitza Stark Publications for gene: PDE6C were set to
24 Apr 2022	Mendeliome v0.13191	PDE6C	Zornitza Stark Mode of inheritance for gene: PDE6C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13190	PDE6C	Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13190	PDE6B	Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13190	PDE6B	Zornitza Stark Phenotypes for gene: PDE6B were changed from to Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500; Retinitis pigmentosa-40 - MIM#613801
24 Apr 2022	Mendeliome v0.13189	PDE6B	Zornitza Stark Publications for gene: PDE6B were set to
24 Apr 2022	Mendeliome v0.13188	PDE6B	Zornitza Stark Mode of inheritance for gene: PDE6B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13187	PDE6A	Zornitza Stark Gene: pde6a has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13187	PDE6A	Zornitza Stark Phenotypes for gene: PDE6A were changed from to Retinitis pigmentosa 43 - MIM#613810
24 Apr 2022	Mendeliome v0.13186	PDE6A	Zornitza Stark Publications for gene: PDE6A were set to
24 Apr 2022	Mendeliome v0.13185	PDE6A	Zornitza Stark Mode of inheritance for gene: PDE6A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13184	PDE6A	Zornitza Stark reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Apr 2022	Mendeliome v0.13184	PDE4D	Zornitza Stark Gene: pde4d has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13184	PDE4D	Zornitza Stark Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613
24 Apr 2022	Mendeliome v0.13183	PDE4D	Zornitza Stark Publications for gene: PDE4D were set to
24 Apr 2022	Mendeliome v0.13182	PDE4D	Zornitza Stark Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13181	PDE4D	Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13181	PDE3A	Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13181	PDE3A	Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome - MIM#112410
24 Apr 2022	Mendeliome v0.13180	PDE3A	Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13179	PDE11A	Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
24 Apr 2022	Mendeliome v0.13179	PDE11A	Zornitza Stark Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475
24 Apr 2022	Mendeliome v0.13178	PDE11A	Zornitza Stark Publications for gene: PDE11A were set to
24 Apr 2022	Mendeliome v0.13177	PDE11A	Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13176	PDE11A	Zornitza Stark Classified gene: PDE11A as Red List (low evidence)
24 Apr 2022	Mendeliome v0.13176	PDE11A	Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
24 Apr 2022	Mendeliome v0.13175	PDE11A	Zornitza Stark Tag disputed tag was added to gene: PDE11A.
24 Apr 2022	Mendeliome v0.13175	SHH	Zornitza Stark Added comment: Comment when marking as ready: DISPUTED association with schizencephaly
24 Apr 2022	Mendeliome v0.13175	SHH	Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13175	SHH	Zornitza Stark Phenotypes for gene: SHH were changed from to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250
24 Apr 2022	Mendeliome v0.13174	SHH	Zornitza Stark Publications for gene: SHH were set to
24 Apr 2022	Mendeliome v0.13173	SHH	Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13172	FAM111B	Zornitza Stark reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13172	SH3BP2	Zornitza Stark commented on gene: SH3BP2: Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment.
24 Apr 2022	Mendeliome v0.13172	SH3BP2	Zornitza Stark Gene: sh3bp2 has been classified as Green List (High Evidence).
24 Apr 2022	Mendeliome v0.13172	SH3BP2	Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM#118400
24 Apr 2022	Mendeliome v0.13171	SH3BP2	Zornitza Stark Publications for gene: SH3BP2 were set to
24 Apr 2022	Mendeliome v0.13170	SH3BP2	Zornitza Stark Mode of pathogenicity for gene: SH3BP2 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
24 Apr 2022	Mendeliome v0.13169	SH3BP2	Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13169	SH3BP2	Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13168	SH3BP2	Zornitza Stark reviewed gene: SH3BP2: 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: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Apr 2022	Mendeliome v0.13168	ATP11A	Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder; Deafness, autosomal dominant 84 MIM#619810 to Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810
24 Apr 2022	Mendeliome v0.13167	ATP11A	Zornitza Stark edited their review of gene: ATP11A: Changed rating: AMBER
24 Apr 2022	Mendeliome v0.13167	ATP11A	Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Apr 2022	Mendeliome v0.13167	TLR8	Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751 to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
23 Apr 2022	Mendeliome v0.13166	TLR8	Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
22 Apr 2022	Mendeliome v0.13166	CEBPA	Zornitza Stark Phenotypes for gene: CEBPA were changed from Leukemia, acute myeloid, somatic MIM#601626 to Leukaemia, acute myeloid, MIM#601626
22 Apr 2022	Mendeliome v0.13165	CEBPA	Zornitza Stark Publications for gene: CEBPA were set to
22 Apr 2022	Mendeliome v0.13164	CEBPA	Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Apr 2022	Mendeliome v0.13163	CEBPA	Zornitza Stark Classified gene: CEBPA as Green List (high evidence)
22 Apr 2022	Mendeliome v0.13163	CEBPA	Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
22 Apr 2022	Mendeliome v0.13162	CEBPA	Zornitza Stark reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukaemia, acute myeloid , MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Apr 2022	Mendeliome v0.13162	CDKN2A	Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Apr 2022	Mendeliome v0.13161	CDKN2A	Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Apr 2022	Mendeliome v0.13160	CDKN2A	Zornitza Stark Classified gene: CDKN2A as Green List (high evidence)
22 Apr 2022	Mendeliome v0.13160	CDKN2A	Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
22 Apr 2022	Mendeliome v0.13159	CDKN2A	Zornitza Stark reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2} MIM#155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Apr 2022	Mendeliome v0.13159	CDKN1B	Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
22 Apr 2022	Mendeliome v0.13159	CD79B	Zornitza Stark Phenotypes for gene: CD79B were changed from Agammaglobulinemia 6 MIM#612692 to Agammaglobulinaemia 6, MIM#612692
22 Apr 2022	Mendeliome v0.13158	DNAJB11	Elena Savva reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34177435, 29706351, 29777155, 33129895; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome, Prenatal Polycystic Kidney Disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13158	CD320	Zornitza Stark Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13157	SLC12A3	Zornitza Stark Gene: slc12a3 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13157	SLC12A3	Zornitza Stark Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, MIM# 263800
21 Apr 2022	Mendeliome v0.13156	SLC12A3	Zornitza Stark Publications for gene: SLC12A3 were set to
21 Apr 2022	Mendeliome v0.13155	SLC12A3	Zornitza Stark Mode of inheritance for gene: SLC12A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13154	SLC12A3	Zornitza Stark reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528245, 11102542; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13154	CC2D2A	Zornitza Stark Publications for gene: CC2D2A were set to 18387594; 18950740; 18513680; 18950740; 19574260; 21725307; 33486889
21 Apr 2022	Mendeliome v0.13153	CC2D2A	Zornitza Stark changed review comment from: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.; to: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models. Note single family reported with isolated RP.
21 Apr 2022	Mendeliome v0.13153	CC2D2A	Zornitza Stark edited their review of gene: CC2D2A: Changed publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 30267408
21 Apr 2022	Mendeliome v0.13153	CC2D2A	Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845
21 Apr 2022	Mendeliome v0.13153	PIDD1	Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
21 Apr 2022	Mendeliome v0.13152	PIDD1	Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
21 Apr 2022	Mendeliome v0.13152	SLC12A1	Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13152	SLC12A1	Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM# 601678
21 Apr 2022	Mendeliome v0.13151	SLC12A1	Zornitza Stark Publications for gene: SLC12A1 were set to
21 Apr 2022	Mendeliome v0.13150	SLC12A1	Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13149	SLC12A1	Zornitza Stark reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13149	FGF23	Bryony Thompson Gene: fgf23 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13149	FGF23	Bryony Thompson Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
21 Apr 2022	Mendeliome v0.13148	FGF23	Bryony Thompson Publications for gene: FGF23 were set to
21 Apr 2022	Mendeliome v0.13147	PDX1	Krithika Murali reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: Pancreatic agenesis 1 - MIM#260370 (AR), MODY, type IV - MIM#606392(AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13147	FGF23	Bryony Thompson Mode of pathogenicity for gene: FGF23 was changed from to Other
21 Apr 2022	Mendeliome v0.13146	FGF23	Bryony Thompson Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13145	FGF5	Bryony Thompson Phenotypes for gene: FGF5 were changed from Hypertrichosis to hypertrichosis MONDO:0019280
21 Apr 2022	Mendeliome v0.13144	FGF14	Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227
21 Apr 2022	Mendeliome v0.13143	FGF23	Bryony Thompson reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062477, 14966565, 15590700, 16151858, 16030159, 25378588, 34444516; Phenotypes: autosomal dominant hypophosphatemic rickets MONDO:0008660, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
21 Apr 2022	Mendeliome v0.13143	PDP1	Krithika Murali reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13143	PDHB	Krithika Murali reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency - MIM#614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13143	FGF14	Bryony Thompson Publications for gene: FGF14 were set to
21 Apr 2022	Mendeliome v0.13142	FGF14	Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataxia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307
21 Apr 2022	Mendeliome v0.13141	FGF14	Bryony Thompson edited their review of gene: FGF14: Added comment: 4 families with spinocerebellar ataxia and 7 families with episodic ataxia. Supporting animal models for both SCA and EA.; Changed publications: 12123606, 12489043, 15470364, 29253853, 30017992, 32112487, 32162847; Changed phenotypes: spinocerebellar ataxia type 27 MONDO:0012247, hereditary episodic ataxia MONDO:0016227; Set current diagnostic: yes
21 Apr 2022	Mendeliome v0.13141	FGF10	Bryony Thompson Gene: fgf10 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13141	FGF10	Bryony Thompson Phenotypes for gene: FGF10 were changed from to congenital alveolar dysplasia due to FGF10 MONDO:0100090; acinar dysplasia caused by mutation in FGF10 MONDO:0600017
21 Apr 2022	Mendeliome v0.13140	FGF10	Bryony Thompson Publications for gene: FGF10 were set to
21 Apr 2022	Mendeliome v0.13139	FGF10	Bryony Thompson Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Apr 2022	Mendeliome v0.13138	FGF10	Bryony Thompson reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916808, 15654336, 16501574, 16630169, 17213838, 33967277, 30639323; Phenotypes: congenital alveolar dysplasia due to FGF10 MONDO:0100090, acinar dysplasia caused by mutation in FGF10 MONDO:0600017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
21 Apr 2022	Mendeliome v0.13138	FFAR4	Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
21 Apr 2022	Mendeliome v0.13138	FFAR4	Bryony Thompson Phenotypes for gene: FFAR4 were changed from to {Obesity, susceptibility to} MIM#607514
21 Apr 2022	Mendeliome v0.13137	FDXR	Bryony Thompson Deleted their review
21 Apr 2022	Mendeliome v0.13137	FFAR4	Bryony Thompson Publications for gene: FFAR4 were set to
21 Apr 2022	Mendeliome v0.13136	FDXR	Bryony Thompson reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
21 Apr 2022	Mendeliome v0.13136	FDXR	Bryony Thompson Deleted their review
21 Apr 2022	Mendeliome v0.13136	FFAR4	Bryony Thompson Classified gene: FFAR4 as Red List (low evidence)
21 Apr 2022	Mendeliome v0.13136	FFAR4	Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
21 Apr 2022	Mendeliome v0.13135	FFAR4	Bryony Thompson reviewed gene: FFAR4: Rating: RED; Mode of pathogenicity: None; Publications: 22343897, 34043793; Phenotypes: {Obesity, susceptibility to} MIM#607514; Mode of inheritance: Unknown
21 Apr 2022	Mendeliome v0.13135	FDXR	Bryony Thompson Deleted their comment
21 Apr 2022	Mendeliome v0.13135	FDX2	Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13135	FDX2	Bryony Thompson Phenotypes for gene: FDX2 were changed from to inborn mitochondrial myopathy MONDO:0009637
21 Apr 2022	Mendeliome v0.13134	FDX2	Bryony Thompson Publications for gene: FDX2 were set to
21 Apr 2022	Mendeliome v0.13133	FDX2	Bryony Thompson Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13132	FDX2	Bryony Thompson reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13132	FDFT1	Bryony Thompson Marked gene: FDFT1 as ready
21 Apr 2022	Mendeliome v0.13132	FDFT1	Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13132	FDFT1	Bryony Thompson Phenotypes for gene: FDFT1 were changed from to squalene synthase deficiency MONDO:0032566
21 Apr 2022	Mendeliome v0.13131	FDFT1	Bryony Thompson Publications for gene: FDFT1 were set to
21 Apr 2022	Mendeliome v0.13130	FDFT1	Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13129	FDFT1	Bryony Thompson reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13129	FBXO7	Bryony Thompson Gene: fbxo7 has been classified as Green List (High Evidence).
21 Apr 2022	Mendeliome v0.13129	FBXO7	Bryony Thompson Phenotypes for gene: FBXO7 were changed from to parkinsonian-pyramidal syndrome MONDO:0009830
21 Apr 2022	Mendeliome v0.13128	FBXO7	Bryony Thompson Publications for gene: FBXO7 were set to
21 Apr 2022	Mendeliome v0.13127	FBXW7	Bryony Thompson Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition to neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058
21 Apr 2022	Mendeliome v0.13126	FBXO7	Bryony Thompson Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Apr 2022	Mendeliome v0.13125	FBXO7	Bryony Thompson reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513678, 19038853, 34781237; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13125	RSPO1	Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13125	FBP1	Bryony Thompson Gene: fbp1 has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13125	FBP1	Bryony Thompson Phenotypes for gene: FBP1 were changed from to fructose-1,6-bisphosphatase deficiency MONDO:0009251
20 Apr 2022	Mendeliome v0.13124	FBRSL1	Bryony Thompson Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome
20 Apr 2022	Mendeliome v0.13123	FBP1	Bryony Thompson Publications for gene: FBP1 were set to
20 Apr 2022	Mendeliome v0.13122	FBP1	Bryony Thompson Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13121	FBP1	Bryony Thompson changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.
20 Apr 2022	Mendeliome v0.13121	FBP1	Bryony Thompson reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13121	CLPB	Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
20 Apr 2022	Mendeliome v0.13120	CLPB	Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
20 Apr 2022	Mendeliome v0.13120	GLRA2	Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13120	GLRA2	Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
20 Apr 2022	Mendeliome v0.13120	GLRA2	Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13119	GLRA2	Zornitza Stark gene: GLRA2 was added gene: GLRA2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLRA2 were set to 26370147; 20479760; 35294868 Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Review for gene: GLRA2 was set to GREEN Added comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model. Sources: Expert list
20 Apr 2022	Mendeliome v0.13118	FAT1	Bryony Thompson Phenotypes for gene: FAT1 were changed from facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
20 Apr 2022	Mendeliome v0.13117	FASTKD2	Bryony Thompson Marked gene: FASTKD2 as ready
20 Apr 2022	Mendeliome v0.13117	FASTKD2	Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13117	FASTKD2	Bryony Thompson Phenotypes for gene: FASTKD2 were changed from to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
20 Apr 2022	Mendeliome v0.13116	FASTKD2	Bryony Thompson Publications for gene: FASTKD2 were set to
20 Apr 2022	Mendeliome v0.13115	FASTKD2	Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13115	FASLG	Bryony Thompson Gene: faslg has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13115	FASLG	Bryony Thompson Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
20 Apr 2022	Mendeliome v0.13114	FASLG	Bryony Thompson Publications for gene: FASLG were set to
20 Apr 2022	Mendeliome v0.13113	FASLG	Bryony Thompson Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13112	FASLG	Bryony Thompson reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13112	PDHA1	Krithika Murali reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8504309; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Apr 2022	Mendeliome v0.13112	FAS	Bryony Thompson Gene: fas has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13112	FAS	Bryony Thompson Phenotypes for gene: FAS were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
20 Apr 2022	Mendeliome v0.13111	FAS	Bryony Thompson Publications for gene: FAS were set to
20 Apr 2022	Mendeliome v0.13110	FAS	Bryony Thompson Mode of inheritance for gene: FAS was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13109	FARSB	Bryony Thompson Gene: farsb has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13109	FAS	Bryony Thompson reviewed gene: FAS: Rating: ; Mode of pathogenicity: None; Publications: 7540117, 7539157, 15459302, 33995372, 34171534; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13109	FARSB	Bryony Thompson Phenotypes for gene: FARSB were changed from to Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215
20 Apr 2022	Mendeliome v0.13108	FARSB	Bryony Thompson Publications for gene: FARSB were set to
20 Apr 2022	Mendeliome v0.13107	FARSB	Bryony Thompson Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13106	FARSB	Bryony Thompson reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 30014610, 29979980; Phenotypes: Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13106	FARS2	Bryony Thompson Gene: fars2 has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13106	FARS2	Bryony Thompson Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
20 Apr 2022	Mendeliome v0.13105	FARS2	Bryony Thompson Publications for gene: FARS2 were set to
20 Apr 2022	Mendeliome v0.13104	FARS2	Bryony Thompson Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13103	PDE6H	Krithika Murali reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6 - MIM#610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13103	FARS2	Bryony Thompson reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13103	FAM58A	Bryony Thompson Gene: fam58a has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13103	FAM58A	Bryony Thompson Phenotypes for gene: FAM58A were changed from to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
20 Apr 2022	Mendeliome v0.13102	FAM58A	Bryony Thompson Publications for gene: FAM58A were set to
20 Apr 2022	Mendeliome v0.13101	PDE6G	Krithika Murali reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13101	PDE6C	Krithika Murali reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone dystrophy 4 - MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13101	FAM58A	Bryony Thompson Mode of inheritance for gene: FAM58A was changed from Unknown to Other
20 Apr 2022	Mendeliome v0.13100	PDE6B	Krithika Murali reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500, Retinitis pigmentosa-40 - MIM#613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13100	PDE6A	Krithika Murali reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13100	FAM58A	Bryony Thompson reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28322501, 8818947; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13100	FAM161A	Bryony Thompson Gene: fam161a has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13100	PDE4D	Krithika Murali reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance-MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13100	PDE3A	Krithika Murali reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertension and brachydactyly syndrome - MIM#112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13100	PDE11A	Krithika Murali reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: 16767104, 18559625, 21047926, 17178847; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13100	FAM161A	Bryony Thompson Phenotypes for gene: FAM161A were changed from to retinitis pigmentosa 28 MONDO:0011630
20 Apr 2022	Mendeliome v0.13099	FAM161A	Bryony Thompson Publications for gene: FAM161A were set to
20 Apr 2022	Mendeliome v0.13098	FAM161A	Bryony Thompson Mode of inheritance for gene: FAM161A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13097	FAM161A	Bryony Thompson reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13097	FAM126A	Bryony Thompson Gene: fam126a has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13097	FAM126A	Bryony Thompson Publications for gene: FAM126A were set to
20 Apr 2022	Mendeliome v0.13096	SHH	Samantha Ayres reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095, 22791840, 19057928, 19533790; Phenotypes: Holoprosencephaly 3, MIM#142945, Microphthalmia with coloboma 5, MIM#611638, Schizencephaly, MIM#269160, Single median maxillary central incisor, MIM#147250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13096	FAM126A	Bryony Thompson Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514
20 Apr 2022	Mendeliome v0.13095	FAM126A	Bryony Thompson reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13095	FAM126A	Bryony Thompson Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13094	FAM111B	Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13094	FAM111B	Bryony Thompson Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
20 Apr 2022	Mendeliome v0.13093	FAM111B	Bryony Thompson Publications for gene: FAM111B were set to
20 Apr 2022	Mendeliome v0.13092	FAM111B	Bryony Thompson Mode of pathogenicity for gene: FAM111B was changed from to Other
20 Apr 2022	Mendeliome v0.13091	FAM111B	Bryony Thompson Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13090	FAM111B	Bryony Thompson edited their review of gene: FAM111B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13090	FAM111B	Bryony Thompson reviewed gene: FAM111B: Rating: ; Mode of pathogenicity: Other; Publications: 24268661, 26471370, 26495788, 27406236; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: None; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13090	FAM111A	Bryony Thompson Gene: fam111a has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13090	FAM111A	Bryony Thompson Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
20 Apr 2022	Mendeliome v0.13089	FAM111A	Bryony Thompson Publications for gene: FAM111A were set to
20 Apr 2022	Mendeliome v0.13088	FAM111A	Bryony Thompson Mode of pathogenicity for gene: FAM111A was changed from to Other
20 Apr 2022	Mendeliome v0.13087	FAM111A	Bryony Thompson Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2022	Mendeliome v0.13086	FAM111A	Bryony Thompson reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684011, 32996714, 32765931, 33010201; Phenotypes: autosomal dominant Kenny-Caffey syndrome MONDO:0007478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13086	FADD	Bryony Thompson Gene: fadd has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13086	FADD	Bryony Thompson Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
20 Apr 2022	Mendeliome v0.13085	FAH	Bryony Thompson Gene: fah has been classified as Green List (High Evidence).
20 Apr 2022	Mendeliome v0.13085	FADD	Bryony Thompson Publications for gene: FADD were set to
20 Apr 2022	Mendeliome v0.13084	FAH	Bryony Thompson Phenotypes for gene: FAH were changed from to Tyrosinemia type I MONDO:0010161
20 Apr 2022	Mendeliome v0.13083	FAH	Bryony Thompson Publications for gene: FAH were set to
20 Apr 2022	Mendeliome v0.13082	FAH	Bryony Thompson Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13081	FAH	Bryony Thompson reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinemia type I MONDO:0010161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Apr 2022	Mendeliome v0.13081	FADD	Bryony Thompson Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13080	FADD	Bryony Thompson reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Apr 2022	Mendeliome v0.13080	SH3BP2	Samantha Ayres reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
19 Apr 2022	Mendeliome v0.13080	F12	Bryony Thompson Gene: f12 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13080	F12	Bryony Thompson Phenotypes for gene: F12 were changed from to Hereditary angioedema type 3 MONDO:0012526
19 Apr 2022	Mendeliome v0.13079	F12	Bryony Thompson Publications for gene: F12 were set to
19 Apr 2022	Mendeliome v0.13078	POMP	Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13078	POMP	Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Proteasome-associated autoinflammatory syndrome 2, MIM# 618048
19 Apr 2022	Mendeliome v0.13077	POMP	Zornitza Stark Publications for gene: POMP were set to
19 Apr 2022	Mendeliome v0.13076	POMP	Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13075	POMP	Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
19 Apr 2022	Mendeliome v0.13075	POMP	Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413, 29805043; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952, Proteasome-associated autoinflammatory syndrome 2, MIM# 618048; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13075	POMT1	Zornitza Stark Marked gene: POMT1 as ready
19 Apr 2022	Mendeliome v0.13075	POMT1	Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13075	POMT1	Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
19 Apr 2022	Mendeliome v0.13074	POMT1	Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13073	POMT1	Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13073	POMT2	Zornitza Stark Marked gene: POMT2 as ready
19 Apr 2022	Mendeliome v0.13073	POMT2	Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13073	POMT2	Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
19 Apr 2022	Mendeliome v0.13072	POMT2	Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13071	POMT2	Zornitza Stark edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
19 Apr 2022	Mendeliome v0.13071	POMT2	Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13071	PPARA	Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13071	PPARA	Zornitza Stark Phenotypes for gene: PPARA were changed from to {Hyperapobetalipoproteinemia, susceptibility to}
19 Apr 2022	Mendeliome v0.13070	PPARA	Zornitza Stark Mode of inheritance for gene: PPARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13069	PPARA	Zornitza Stark Classified gene: PPARA as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13069	PPARA	Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13068	PPARA	Zornitza Stark reviewed gene: PPARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hyperapobetalipoproteinemia, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13068	PPM1K	Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13068	PPM1K	Zornitza Stark Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135
19 Apr 2022	Mendeliome v0.13067	PPM1K	Zornitza Stark Publications for gene: PPM1K were set to
19 Apr 2022	Mendeliome v0.13066	PPM1K	Zornitza Stark Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13065	PPM1K	Zornitza Stark Classified gene: PPM1K as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13065	PPM1K	Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13064	PPM1K	Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13064	PPOX	Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13064	PPOX	Zornitza Stark Phenotypes for gene: PPOX were changed from to Porphyria variegata , MIM#176200
19 Apr 2022	Mendeliome v0.13063	PPOX	Zornitza Stark Publications for gene: PPOX were set to
19 Apr 2022	Mendeliome v0.13062	PPOX	Zornitza Stark Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13061	PPOX	Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12357337, 32247286, 23324528, 27982422; Phenotypes: Porphyria variegata , MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13061	PPP1R15B	Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
19 Apr 2022	Mendeliome v0.13061	SH2D1A	Samantha Ayres reviewed gene: SH2D1A: Rating: ; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
19 Apr 2022	Mendeliome v0.13061	SGCG	Samantha Ayres reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 8923014, 7481775, 8968757, 27708273; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13061	CFHR5	Ain Roesley Gene: cfhr5 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13061	CFHR5	Ain Roesley Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
19 Apr 2022	Mendeliome v0.13060	CFHR5	Ain Roesley Publications for gene: CFHR5 were set to
19 Apr 2022	Mendeliome v0.13060	CFHR5	Ain Roesley Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	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
19 Apr 2022	Mendeliome v0.13059	CFH	Ain Roesley Gene: cfh has been classified as Green List (High Evidence).
19 Apr 2022	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
19 Apr 2022	Mendeliome v0.13059	CFH	Ain Roesley Publications for gene: CFH were set to
19 Apr 2022	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
19 Apr 2022	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
19 Apr 2022	Mendeliome v0.13058	PPP1R15B	Zornitza Stark Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
19 Apr 2022	Mendeliome v0.13057	PPP1R15B	Zornitza Stark Publications for gene: PPP1R15B were set to
19 Apr 2022	Mendeliome v0.13056	PPP1R15B	Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13055	PPP1R15B	Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
19 Apr 2022	Mendeliome v0.13055	PPP1R15B	Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
19 Apr 2022	Mendeliome v0.13054	PPP1R15B	Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13054	PPP1R3A	Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13054	PPP1R3A	Zornitza Stark Phenotypes for gene: PPP1R3A were changed from to Insulin resistance, severe, digenic 125853
19 Apr 2022	Mendeliome v0.13053	PPP1R3A	Zornitza Stark Publications for gene: PPP1R3A were set to
19 Apr 2022	Mendeliome v0.13052	PPP1R3A	Zornitza Stark Mode of inheritance for gene: PPP1R3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13051	PPP1R3A	Zornitza Stark Classified gene: PPP1R3A as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13051	PPP1R3A	Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13050	PPP1R3A	Zornitza Stark reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: None; Publications: 29948331, 12118251, 18232732; Phenotypes: Insulin resistance, severe, digenic 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13050	PRCD	Zornitza Stark Gene: prcd has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13050	PRCD	Zornitza Stark Phenotypes for gene: PRCD were changed from to Retinitis pigmentosa 36, MIM# 610599
19 Apr 2022	Mendeliome v0.13049	PRCD	Zornitza Stark Publications for gene: PRCD were set to
19 Apr 2022	Mendeliome v0.13048	PRCD	Zornitza Stark Mode of inheritance for gene: PRCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13047	PRCD	Zornitza Stark reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13047	PRDM16	Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
19 Apr 2022	Mendeliome v0.13047	PRDM16	Zornitza Stark Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
19 Apr 2022	Mendeliome v0.13046	PRDM16	Zornitza Stark Publications for gene: PRDM16 were set to
19 Apr 2022	Mendeliome v0.13045	PRDM16	Zornitza Stark Mode of inheritance for gene: PRDM16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13044	PRDM16	Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
19 Apr 2022	Mendeliome v0.13044	PRDM16	Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
19 Apr 2022	Mendeliome v0.13043	PRDM16	Zornitza Stark reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 23768516, 29367541, 34915728, 31965688, 29367541; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13043	CFD	Ain Roesley Gene: cfd has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13043	CFD	Ain Roesley Phenotypes for gene: CFD were changed from to Complement factor D deficiency MIM#613912
19 Apr 2022	Mendeliome v0.13042	CFD	Ain Roesley Publications for gene: CFD were set to
19 Apr 2022	Mendeliome v0.13041	CFD	Ain Roesley Mode of inheritance for gene: CFD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13040	CFD	Ain Roesley reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency MIM#613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13040	CEP78	Ain Roesley Gene: cep78 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13040	CEP78	Ain Roesley Phenotypes for gene: CEP78 were changed from to Cone-rod dystrophy and hearing loss MIM#617236
19 Apr 2022	Mendeliome v0.13039	CEP78	Ain Roesley Publications for gene: CEP78 were set to
19 Apr 2022	Mendeliome v0.13039	CEP78	Ain Roesley Mode of inheritance for gene: CEP78 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13038	CEP78	Ain Roesley reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 28005958, 27588451, 27588452, 27627988; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13038	CEBPA	Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13038	CEBPA	Ain Roesley Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, somatic MIM#601626
19 Apr 2022	Mendeliome v0.13038	CEBPA	Ain Roesley Classified gene: CEBPA as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13038	CEBPA	Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13037	CEBPA	Ain Roesley reviewed gene: CEBPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, somatic MIM#601626; Mode of inheritance: None; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13037	CEACAM16	Ain Roesley Gene: ceacam16 has been classified as Green List (High Evidence).
19 Apr 2022	Mendeliome v0.13037	CEACAM16	Ain Roesley Publications for gene: CEACAM16 were set to
19 Apr 2022	Mendeliome v0.13037	CEACAM16	Ain Roesley Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
19 Apr 2022	Mendeliome v0.13037	CEACAM16	Ain Roesley Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Apr 2022	Mendeliome v0.13036	CEACAM16	Ain Roesley reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13036	CDKN2A	Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13036	CDKN2A	Ain Roesley Phenotypes for gene: CDKN2A were changed from to {Melanoma and neural system tumor syndrome} MIM#155755; {Melanoma, cutaneous malignant, 2} MIM#155601; {Melanoma-pancreatic cancer syndrome} MIM#606719
19 Apr 2022	Mendeliome v0.13036	CDKN2A	Ain Roesley Classified gene: CDKN2A as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13036	CDKN2A	Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13035	CDKN2A	Ain Roesley reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma and neural system tumor syndrome} MIM#155755, {Melanoma, cutaneous malignant, 2} MIM#155601, {Melanoma-pancreatic cancer syndrome} MIM#606719; Mode of inheritance: None; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13035	CDKN1B	Ain Roesley Phenotypes for gene: CDKN1B were changed from to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
19 Apr 2022	Mendeliome v0.13034	CDKN1B	Ain Roesley Publications for gene: CDKN1B were set to
19 Apr 2022	Mendeliome v0.13034	CDKN1B	Ain Roesley Mode of inheritance for gene: CDKN1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Apr 2022	Mendeliome v0.13033	CDKN1B	Ain Roesley reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24819502, 17030811, 23555276; Phenotypes: Multiple endocrine neoplasia type 4, MEN4, OMIM #610755; Mode of inheritance: None; Current diagnostic: yes
19 Apr 2022	Mendeliome v0.13033	CDK4	Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13033	CDK4	Ain Roesley Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3} MIM#609048
19 Apr 2022	Mendeliome v0.13032	CDK4	Ain Roesley Classified gene: CDK4 as Red List (low evidence)
19 Apr 2022	Mendeliome v0.13032	CDK4	Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
19 Apr 2022	Mendeliome v0.13031	CDK4	Ain Roesley reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3} MIM#609048; Mode of inheritance: None; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13031	CDK10	Ain Roesley changed review comment from: >5 families; to: 6 families thus far
18 Apr 2022	Mendeliome v0.13031	CDHR1	Ain Roesley Tag SV/CNV tag was added to gene: CDHR1.
18 Apr 2022	Mendeliome v0.13031	CDK10	Ain Roesley Gene: cdk10 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13031	CDK10	Ain Roesley Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694
18 Apr 2022	Mendeliome v0.13031	CDK10	Ain Roesley Publications for gene: CDK10 were set to
18 Apr 2022	Mendeliome v0.13031	CDK10	Ain Roesley Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13030	CDK10	Ain Roesley reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341, 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13030	CDHR1	Ain Roesley Gene: cdhr1 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13030	CDHR1	Ain Roesley Phenotypes for gene: CDHR1 were changed from to Cone-rod dystrophy 15 MIM#613660; Retinitis pigmentosa 65 MIM#613660
18 Apr 2022	Mendeliome v0.13029	CDHR1	Ain Roesley Publications for gene: CDHR1 were set to
18 Apr 2022	Mendeliome v0.13029	CDHR1	Ain Roesley Mode of inheritance for gene: CDHR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13028	CDHR1	Ain Roesley reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20805371, 20087419, 34926197, 32277948, 32783370, 31387115, 32681094; Phenotypes: Cone-rod dystrophy 15 MIM#613660, Retinitis pigmentosa 65 MIM#613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13028	CDC73	Ain Roesley Gene: cdc73 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13028	CDC73	Ain Roesley Publications for gene: CDC73 were set to
18 Apr 2022	Mendeliome v0.13028	CDC73	Ain Roesley Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
18 Apr 2022	Mendeliome v0.13028	CDC73	Ain Roesley Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13027	CDC73	Ain Roesley reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13027	CDC42	Ain Roesley Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome, MIM#616737 to Takenouchi-Kosaki syndrome, MIM#616737
18 Apr 2022	Mendeliome v0.13026	CDC42	Ain Roesley Publications for gene: CDC42 were set to 29394990; 31601675; 32303876; 32231661
18 Apr 2022	Mendeliome v0.13026	CDC42	Ain Roesley Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737
18 Apr 2022	Mendeliome v0.13025	CDC42	Ain Roesley Publications for gene: CDC42 were set to
18 Apr 2022	Mendeliome v0.13025	CDC42	Ain Roesley Gene: cdc42 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13025	CDC42	Ain Roesley Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13024	CDC42	Ain Roesley reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394990, 31601675, 32303876, 32231661; Phenotypes: Takenouchi-Kosaki syndrome, MIM#616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13024	CDC14A	Ain Roesley Gene: cdc14a has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13024	CDC14A	Ain Roesley Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
18 Apr 2022	Mendeliome v0.13023	CDC14A	Ain Roesley Publications for gene: CDC14A were set to
18 Apr 2022	Mendeliome v0.13023	CDC14A	Ain Roesley Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13022	CDC14A	Ain Roesley reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 2725905; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13022	CD79B	Ain Roesley Gene: cd79b has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13022	CD79B	Ain Roesley Phenotypes for gene: CD79B were changed from to Agammaglobulinemia 6 MIM#612692
18 Apr 2022	Mendeliome v0.13022	CD79B	Ain Roesley Publications for gene: CD79B were set to
18 Apr 2022	Mendeliome v0.13021	CD79B	Ain Roesley Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13020	CD79B	Ain Roesley reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17709424, 17675462, 33733381, 24722855; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Apr 2022	Mendeliome v0.13020	PRDM5	Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13020	PRDM5	Zornitza Stark Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170
18 Apr 2022	Mendeliome v0.13019	PRDM5	Zornitza Stark Publications for gene: PRDM5 were set to
18 Apr 2022	Mendeliome v0.13018	PRDM5	Zornitza Stark Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13017	PRDM5	Zornitza Stark reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21664999, 22122778, 21664999, 33739556, 27032025; Phenotypes: Brittle cornea syndrome 2, MIM# 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13017	PREPL	Zornitza Stark Gene: prepl has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13017	PREPL	Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
18 Apr 2022	Mendeliome v0.13016	PREPL	Zornitza Stark Publications for gene: PREPL were set to
18 Apr 2022	Mendeliome v0.13015	PREPL	Zornitza Stark Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13014	PRG4	Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13014	PRG4	Zornitza Stark Phenotypes for gene: PRG4 were changed from to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
18 Apr 2022	Mendeliome v0.13013	PRG4	Zornitza Stark Publications for gene: PRG4 were set to
18 Apr 2022	Mendeliome v0.13012	PRG4	Zornitza Stark Mode of inheritance for gene: PRG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13011	PRG4	Zornitza Stark reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13011	PRICKLE2	Zornitza Stark Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder, global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. to Neurodevelopmental disorder, MONDO:0700092; global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder.
18 Apr 2022	Mendeliome v0.13010	PRICKLE1	Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13010	PRICKLE1	Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
18 Apr 2022	Mendeliome v0.13009	PRICKLE1	Zornitza Stark Publications for gene: PRICKLE1 were set to
18 Apr 2022	Mendeliome v0.13008	PRICKLE1	Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13007	PRICKLE1	Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.13007	PRKAR1A	Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13007	PRKAR1A	Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
18 Apr 2022	Mendeliome v0.13006	PRKAR1A	Zornitza Stark Publications for gene: PRKAR1A were set to
18 Apr 2022	Mendeliome v0.13005	PRKAR1A	Zornitza Stark Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13004	PRKAR1A	Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973256, 11115848, 12424709, 21651393; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13004	PRKCG	Zornitza Stark Gene: prkcg has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13004	PRKCG	Zornitza Stark Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, MIM# 605361
18 Apr 2022	Mendeliome v0.13003	PRKCG	Zornitza Stark Publications for gene: PRKCG were set to
18 Apr 2022	Mendeliome v0.13002	PRKCG	Zornitza Stark Mode of inheritance for gene: PRKCG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13001	PRKCG	Zornitza Stark reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12644968, 14676051, 14694043, 16193476, 33739604, 34292398; Phenotypes: Spinocerebellar ataxia 14, MIM# 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.13001	PRKG1	Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.13001	PRKG1	Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
18 Apr 2022	Mendeliome v0.13000	PRKG1	Zornitza Stark Publications for gene: PRKG1 were set to
18 Apr 2022	Mendeliome v0.12999	PRKG1	Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.12998	PRKG1	Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2022	Mendeliome v0.12998	PRMT7	Zornitza Stark Marked gene: PRMT7 as ready
18 Apr 2022	Mendeliome v0.12998	PRMT7	Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.12998	PRMT7	Zornitza Stark Phenotypes for gene: PRMT7 were changed from to Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157
18 Apr 2022	Mendeliome v0.12997	PRMT7	Zornitza Stark Publications for gene: PRMT7 were set to
18 Apr 2022	Mendeliome v0.12996	PRMT7	Zornitza Stark Mode of inheritance for gene: PRMT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12995	PRMT7	Zornitza Stark reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12995	PRODH	Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.12995	PRODH	Zornitza Stark Phenotypes for gene: PRODH were changed from to Hyperprolinaemia, type I 239500; Proline oxidase deficiency
18 Apr 2022	Mendeliome v0.12994	PRODH	Zornitza Stark Publications for gene: PRODH were set to
18 Apr 2022	Mendeliome v0.12993	PRODH	Zornitza Stark Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12992	PROK2	Zornitza Stark Gene: prok2 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.12992	PROK2	Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
18 Apr 2022	Mendeliome v0.12991	PROK2	Zornitza Stark Publications for gene: PROK2 were set to
18 Apr 2022	Mendeliome v0.12990	PROK2	Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12989	PROK2	Zornitza Stark reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12989	PROM1	Zornitza Stark Gene: prom1 has been classified as Green List (High Evidence).
18 Apr 2022	Mendeliome v0.12989	PROM1	Zornitza Stark Phenotypes for gene: PROM1 were changed from to Inherited retinal dystrophy, MONDO:0019118; Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MI# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786
18 Apr 2022	Mendeliome v0.12988	PROM1	Zornitza Stark Publications for gene: PROM1 were set to
18 Apr 2022	Mendeliome v0.12987	PROM1	Zornitza Stark Mode of inheritance for gene: PROM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Apr 2022	Mendeliome v0.12986	PROM1	Zornitza Stark reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587575, 17605048, 18654668, 29416601, 31576780, 34664634, 32820593; Phenotypes: Inherited retinal dystrophy, MONDO:0019118, Cone-rod dystrophy 12, MIM# 612657, Macular dystrophy, retinal, 2, MI# 608051, Retinitis pigmentosa 41, MIM# 612095, Stargardt disease 4, MIM# 603786; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12986	PROS1	Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12986	PROS1	Zornitza Stark Phenotypes for gene: PROS1 were changed from to Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
16 Apr 2022	Mendeliome v0.12985	PROS1	Zornitza Stark Publications for gene: PROS1 were set to
16 Apr 2022	Mendeliome v0.12984	PROS1	Zornitza Stark Mode of inheritance for gene: PROS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12983	PROS1	Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7545463, 19466456, 10063989, 20484936, 19729839; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12983	PRPF3	Zornitza Stark Gene: prpf3 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12983	PRPF3	Zornitza Stark Phenotypes for gene: PRPF3 were changed from to Retinitis pigmentosa 18, MIM# 601414
16 Apr 2022	Mendeliome v0.12982	PRPF3	Zornitza Stark Publications for gene: PRPF3 were set to
16 Apr 2022	Mendeliome v0.12981	PRPF3	Zornitza Stark Mode of inheritance for gene: PRPF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12980	PRPF3	Zornitza Stark reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11773002, 27886254; Phenotypes: Retinitis pigmentosa 18, MIM# 601414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12980	PRPF4	Zornitza Stark Gene: prpf4 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12980	PRPF4	Zornitza Stark Phenotypes for gene: PRPF4 were changed from to Retinitis pigmentosa 70, MIM# 615922
16 Apr 2022	Mendeliome v0.12979	PRPF4	Zornitza Stark Publications for gene: PRPF4 were set to
16 Apr 2022	Mendeliome v0.12978	PRPF4	Zornitza Stark Mode of inheritance for gene: PRPF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12977	PRPF4	Zornitza Stark reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24419317, 25383878; Phenotypes: Retinitis pigmentosa 70, MIM# 615922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12977	PRPF6	Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12977	PRPF6	Zornitza Stark Phenotypes for gene: PRPF6 were changed from to Retinitis pigmentosa 60, MIM# 613983
16 Apr 2022	Mendeliome v0.12976	PRPF6	Zornitza Stark Publications for gene: PRPF6 were set to
16 Apr 2022	Mendeliome v0.12975	PRPF6	Zornitza Stark Mode of inheritance for gene: PRPF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12974	PRPF6	Zornitza Stark Classified gene: PRPF6 as Amber List (moderate evidence)
16 Apr 2022	Mendeliome v0.12974	PRPF6	Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12973	PRPF6	Zornitza Stark reviewed gene: PRPF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12973	PRPH	Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12973	PRPH	Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
16 Apr 2022	Mendeliome v0.12972	PRPH	Zornitza Stark Publications for gene: PRPH were set to
16 Apr 2022	Mendeliome v0.12971	PRPH	Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12970	PRPH	Zornitza Stark Classified gene: PRPH as Amber List (moderate evidence)
16 Apr 2022	Mendeliome v0.12970	PRPH	Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12969	PRPH	Zornitza Stark reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20363051, 15322088, 15446584; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12969	PRSS1	Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12969	PRSS1	Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
16 Apr 2022	Mendeliome v0.12968	PRSS1	Zornitza Stark Publications for gene: PRSS1 were set to
16 Apr 2022	Mendeliome v0.12967	PRSS1	Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12966	PRSS1	Zornitza Stark Tag SV/CNV tag was added to gene: PRSS1.
16 Apr 2022	Mendeliome v0.12966	PRSS1	Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12966	PRSS12	Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12966	PRSS12	Zornitza Stark Phenotypes for gene: PRSS12 were changed from to Intellectual disability, PRSS12 related MIM#249500
16 Apr 2022	Mendeliome v0.12965	PRSS12	Zornitza Stark Publications for gene: PRSS12 were set to
16 Apr 2022	Mendeliome v0.12964	PRSS12	Zornitza Stark Mode of inheritance for gene: PRSS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12963	PRSS12	Zornitza Stark Classified gene: PRSS12 as Amber List (moderate evidence)
16 Apr 2022	Mendeliome v0.12963	PRSS12	Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
16 Apr 2022	Mendeliome v0.12962	PRSS12	Zornitza Stark reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12962	PSMC2	Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
16 Apr 2022	Mendeliome v0.12962	PSMC2	Zornitza Stark Classified gene: PSMC2 as Red List (low evidence)
16 Apr 2022	Mendeliome v0.12962	PSMC2	Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
16 Apr 2022	Mendeliome v0.12961	PSMC2	Zornitza Stark reviewed gene: PSMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
16 Apr 2022	Mendeliome v0.12961	PSMC3IP	Zornitza Stark Gene: psmc3ip has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12961	PSMC3IP	Zornitza Stark Phenotypes for gene: PSMC3IP were changed from to Ovarian dysgenesis 3, MIM# 614324
16 Apr 2022	Mendeliome v0.12960	PSMC3IP	Zornitza Stark Publications for gene: PSMC3IP were set to
16 Apr 2022	Mendeliome v0.12959	PSMC3IP	Zornitza Stark Mode of inheritance for gene: PSMC3IP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12958	PSMC3IP	Zornitza Stark reviewed gene: PSMC3IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963259, 35352317, 34878148, 30406445, 29240891; Phenotypes: Ovarian dysgenesis 3, MIM# 614324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12958	PSMD12	Zornitza Stark Gene: psmd12 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12958	PSMD12	Zornitza Stark Phenotypes for gene: PSMD12 were changed from to Stankiewicz-Isidor syndrome, MIM# 617516
16 Apr 2022	Mendeliome v0.12957	PSMD12	Zornitza Stark Publications for gene: PSMD12 were set to
16 Apr 2022	Mendeliome v0.12956	PSMD12	Zornitza Stark Mode of inheritance for gene: PSMD12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12955	PSMD12	Zornitza Stark reviewed gene: PSMD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132691, 34906456; Phenotypes: Stankiewicz-Isidor syndrome, MIM# 617516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12955	PSPH	Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12955	PSPH	Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism
16 Apr 2022	Mendeliome v0.12954	PSPH	Zornitza Stark Publications for gene: PSPH were set to
16 Apr 2022	Mendeliome v0.12953	PSPH	Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12952	PSTPIP1	Zornitza Stark Marked gene: PSTPIP1 as ready
16 Apr 2022	Mendeliome v0.12952	PSTPIP1	Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12952	PSTPIP1	Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
16 Apr 2022	Mendeliome v0.12951	PSTPIP1	Zornitza Stark Publications for gene: PSTPIP1 were set to
16 Apr 2022	Mendeliome v0.12950	PSTPIP1	Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12949	PSTPIP1	Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12949	PTGDR	Zornitza Stark Marked gene: PTGDR as ready
16 Apr 2022	Mendeliome v0.12949	PTGDR	Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
16 Apr 2022	Mendeliome v0.12949	PTGDR	Zornitza Stark Phenotypes for gene: PTGDR were changed from to {Asthma, susceptibility to, 1} 607277
16 Apr 2022	Mendeliome v0.12948	PTGDR	Zornitza Stark Mode of inheritance for gene: PTGDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12947	PTGDR	Zornitza Stark Classified gene: PTGDR as Red List (low evidence)
16 Apr 2022	Mendeliome v0.12947	PTGDR	Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
16 Apr 2022	Mendeliome v0.12946	PTGDR	Zornitza Stark reviewed gene: PTGDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma, susceptibility to, 1} 607277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2022	Mendeliome v0.12946	PTH	Zornitza Stark Marked gene: PTH as ready
16 Apr 2022	Mendeliome v0.12946	PTH	Zornitza Stark Gene: pth has been classified as Green List (High Evidence).
16 Apr 2022	Mendeliome v0.12946	PTH	Zornitza Stark Phenotypes for gene: PTH were changed from to Hypoparathyroidism, familial isolated 1, MIM# 146200
16 Apr 2022	Mendeliome v0.12945	PTH	Zornitza Stark Publications for gene: PTH were set to
16 Apr 2022	Mendeliome v0.12944	PTH	Zornitza Stark Mode of inheritance for gene: PTH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
16 Apr 2022	Mendeliome v0.12943	PTH	Zornitza Stark reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2212001, 1302009, 10523031, 35165722, 32421798; Phenotypes: Hypoparathyroidism, familial isolated 1, MIM# 146200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
15 Apr 2022	Mendeliome v0.12943	PTH1R	Zornitza Stark Marked gene: PTH1R as ready
15 Apr 2022	Mendeliome v0.12943	PTH1R	Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
15 Apr 2022	Mendeliome v0.12943	PTH1R	Zornitza Stark Phenotypes for gene: PTH1R were changed from to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045
15 Apr 2022	Mendeliome v0.12942	PTH1R	Zornitza Stark Publications for gene: PTH1R were set to
15 Apr 2022	Mendeliome v0.12941	PTH1R	Zornitza Stark edited their review of gene: PTH1R: Changed publications: 7701349, 8855805, 17164305, 15525660, 19061984
15 Apr 2022	Mendeliome v0.12941	PTH1R	Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
15 Apr 2022	Mendeliome v0.12940	PTH1R	Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
15 Apr 2022	Mendeliome v0.12940	PTHLH	Zornitza Stark Marked gene: PTHLH as ready
15 Apr 2022	Mendeliome v0.12940	PTHLH	Zornitza Stark Gene: pthlh has been classified as Green List (High Evidence).
15 Apr 2022	Mendeliome v0.12940	PTHLH	Zornitza Stark Phenotypes for gene: PTHLH were changed from to Brachydactyly, type E2, MIM# 613382
15 Apr 2022	Mendeliome v0.12939	PTHLH	Zornitza Stark Publications for gene: PTHLH were set to
15 Apr 2022	Mendeliome v0.12938	PTHLH	Zornitza Stark Mode of inheritance for gene: PTHLH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Apr 2022	Mendeliome v0.12937	PTHLH	Zornitza Stark reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Apr 2022	Mendeliome v0.12937	PTPN14	Zornitza Stark Marked gene: PTPN14 as ready
15 Apr 2022	Mendeliome v0.12937	PTPN14	Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
15 Apr 2022	Mendeliome v0.12937	PTPN14	Zornitza Stark Phenotypes for gene: PTPN14 were changed from to Choanal atresia and lymphoedema, MIM# 613611
15 Apr 2022	Mendeliome v0.12936	PTPN14	Zornitza Stark Publications for gene: PTPN14 were set to
15 Apr 2022	Mendeliome v0.12935	PTPN14	Zornitza Stark Mode of inheritance for gene: PTPN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
15 Apr 2022	Mendeliome v0.12934	PTPN14	Zornitza Stark reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270; Phenotypes: Choanal atresia and lymphoedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Apr 2022	Mendeliome v0.12934	CLPB	Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
15 Apr 2022	Mendeliome v0.12933	CLPB	Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
15 Apr 2022	Mendeliome v0.12933	GCNA	Zornitza Stark Phenotypes for gene: GCNA were changed from Spermatogenic failure, X-linked, 4, MIM# 301077 to Spermatogenic failure, X-linked, 4, MIM# 301077
15 Apr 2022	Mendeliome v0.12933	GCNA	Zornitza Stark Phenotypes for gene: GCNA were changed from primary spermatogenic failure to Spermatogenic failure, X-linked, 4, MIM# 301077
15 Apr 2022	Mendeliome v0.12932	GCNA	Zornitza Stark reviewed gene: GCNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked, 4, MIM# 301077; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
15 Apr 2022	Mendeliome v0.12932	TCF3	Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
15 Apr 2022	Mendeliome v0.12931	TCF3	Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
15 Apr 2022	Mendeliome v0.12931	SMPX	Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset to Deafness, X-linked 4, MIM# 300066; Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
15 Apr 2022	Mendeliome v0.12930	SMPX	Zornitza Stark edited their review of gene: SMPX: Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
14 Apr 2022	Mendeliome v0.12930	PTPN22	Zornitza Stark Marked gene: PTPN22 as ready
14 Apr 2022	Mendeliome v0.12930	PTPN22	Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12930	PTPN22	Zornitza Stark Mode of inheritance for gene: PTPN22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12929	PTPN22	Zornitza Stark Classified gene: PTPN22 as Red List (low evidence)
14 Apr 2022	Mendeliome v0.12929	PTPN22	Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12928	PTPN22	Zornitza Stark reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12928	PTPRO	Zornitza Stark Marked gene: PTPRO as ready
14 Apr 2022	Mendeliome v0.12928	PTPRO	Zornitza Stark Gene: ptpro has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12928	PTPRO	Zornitza Stark Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196
14 Apr 2022	Mendeliome v0.12927	PTPRO	Zornitza Stark Publications for gene: PTPRO were set to
14 Apr 2022	Mendeliome v0.12926	PTPRO	Zornitza Stark Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12925	PTPRO	Zornitza Stark reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12925	PTRH2	Zornitza Stark Marked gene: PTRH2 as ready
14 Apr 2022	Mendeliome v0.12925	PTRH2	Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12925	PTRH2	Zornitza Stark Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
14 Apr 2022	Mendeliome v0.12924	PTRH2	Zornitza Stark Publications for gene: PTRH2 were set to
14 Apr 2022	Mendeliome v0.12923	PTRH2	Zornitza Stark Mode of inheritance for gene: PTRH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12922	PTRH2	Zornitza Stark Deleted their comment
14 Apr 2022	Mendeliome v0.12922	PTRH2	Zornitza Stark commented on gene: PTRH2: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.
14 Apr 2022	Mendeliome v0.12922	PTS	Zornitza Stark Marked gene: PTS as ready
14 Apr 2022	Mendeliome v0.12922	PTS	Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12922	PTS	Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
14 Apr 2022	Mendeliome v0.12921	PTS	Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12920	PTS	Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12920	PUM1	Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12920	PUM1	Zornitza Stark Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related
14 Apr 2022	Mendeliome v0.12919	PUM1	Zornitza Stark Publications for gene: PUM1 were set to
14 Apr 2022	Mendeliome v0.12918	PUM1	Zornitza Stark Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12917	PUM1	Zornitza Stark reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905, 30903679, 31859446; Phenotypes: Spinocerebellar ataxia 47, MIM# 617931, Neurodevelopmental disorder, MONDO:0700092, PUM1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12917	PYCR2	Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12917	PYCR2	Zornitza Stark Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420
14 Apr 2022	Mendeliome v0.12916	PYCR2	Zornitza Stark Publications for gene: PYCR2 were set to
14 Apr 2022	Mendeliome v0.12915	F12	Bryony Thompson Mode of pathogenicity for gene: F12 was changed from to Other
14 Apr 2022	Mendeliome v0.12915	PYCR2	Zornitza Stark Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12914	PYCR2	Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12914	F12	Bryony Thompson Mode of inheritance for gene: F12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12913	PYROXD1	Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12913	PYROXD1	Zornitza Stark Phenotypes for gene: PYROXD1 were changed from to Myopathy, myofibrillar, 8 , MIM#617258
14 Apr 2022	Mendeliome v0.12912	PYROXD1	Zornitza Stark Publications for gene: PYROXD1 were set to
14 Apr 2022	Mendeliome v0.12911	PYROXD1	Zornitza Stark Mode of inheritance for gene: PYROXD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12910	F12	Bryony Thompson commented on gene: F12: Also associated with FXII deficiency - PMID: 29383625, 20022356, 18024408, 20386432, 26709783, 21264442, 28007010, 15205584, 30700128 - Biallalelic loss-of-function variants are a well-established cause of FXII deficiency. FXII deficiency is not associated with bleeding risk unlike other coagulation factors, it is either asymptomatic or characterized by a prolonged activated partial thromboplastin time. DEFINITIVE gene-disease validity classification by the ClinGen Hemostasis Thrombosis VCEP, Classification - 01/22/2020
14 Apr 2022	Mendeliome v0.12910	PYROXD1	Zornitza Stark reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745833; Phenotypes: Myopathy, myofibrillar, 8 , MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12910	F12	Bryony Thompson reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2022	Mendeliome v0.12910	SGCD	Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12910	SGCD	Zornitza Stark Phenotypes for gene: SGCD were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
14 Apr 2022	Mendeliome v0.12909	SGCD	Zornitza Stark Publications for gene: SGCD were set to
14 Apr 2022	Mendeliome v0.12908	SGCD	Zornitza Stark Mode of inheritance for gene: SGCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12907	SGCD	Zornitza Stark changed review comment from: Association with LGMD is DEFINITIVE by ClinGen.; to: Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported.
14 Apr 2022	Mendeliome v0.12907	SGCD	Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12907	SGCB	Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12907	SGCB	Zornitza Stark Phenotypes for gene: SGCB were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
14 Apr 2022	Mendeliome v0.12906	SGCB	Zornitza Stark Publications for gene: SGCB were set to
14 Apr 2022	Mendeliome v0.12905	SGCB	Zornitza Stark Mode of inheritance for gene: SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12904	SGCA	Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12904	SGCA	Zornitza Stark Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
14 Apr 2022	Mendeliome v0.12903	SGCA	Zornitza Stark Publications for gene: SGCA were set to
14 Apr 2022	Mendeliome v0.12902	SGCA	Zornitza Stark Mode of inheritance for gene: SGCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12901	SFXN4	Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12901	SFXN4	Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
14 Apr 2022	Mendeliome v0.12900	SFXN4	Zornitza Stark Publications for gene: SFXN4 were set to
14 Apr 2022	Mendeliome v0.12899	SFXN4	Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12898	SFRP4	Zornitza Stark Gene: sfrp4 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12898	SFRP4	Zornitza Stark Phenotypes for gene: SFRP4 were changed from to Pyle disease, MIM#265900
14 Apr 2022	Mendeliome v0.12897	SFRP4	Zornitza Stark Publications for gene: SFRP4 were set to
14 Apr 2022	Mendeliome v0.12896	SFRP4	Zornitza Stark Mode of inheritance for gene: SFRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12895	SFRP4	Zornitza Stark reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12895	RASGRP1	Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12895	RASGRP1	Zornitza Stark Phenotypes for gene: RASGRP1 were changed from to Immunodeficiency 64 (MIM#618534)
14 Apr 2022	Mendeliome v0.12894	RASGRP1	Zornitza Stark Publications for gene: RASGRP1 were set to
14 Apr 2022	Mendeliome v0.12893	RASGRP1	Zornitza Stark Mode of inheritance for gene: RASGRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12892	PDCD1	Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12892	PDCD1	Zornitza Stark Phenotypes for gene: PDCD1 were changed from PDCD1 deficiency to PDCD1 deficiency; Inborn errors of immunity, MONDO:0003778
14 Apr 2022	Mendeliome v0.12891	PDCD1	Zornitza Stark Phenotypes for gene: PDCD1 were changed from to PDCD1 deficiency
14 Apr 2022	Mendeliome v0.12890	PDCD1	Zornitza Stark Publications for gene: PDCD1 were set to
14 Apr 2022	Mendeliome v0.12889	PDCD1	Zornitza Stark Mode of inheritance for gene: PDCD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12888	PDCD1	Zornitza Stark Classified gene: PDCD1 as Red List (low evidence)
14 Apr 2022	Mendeliome v0.12888	PDCD1	Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12887	PCK2	Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12887	PCK2	Zornitza Stark Phenotypes for gene: PCK2 were changed from to PEPCK deficiency, mitochondrial - MIM#261650
14 Apr 2022	Mendeliome v0.12886	PCK2	Zornitza Stark Mode of inheritance for gene: PCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12885	PCK2	Zornitza Stark Classified gene: PCK2 as Red List (low evidence)
14 Apr 2022	Mendeliome v0.12885	PCK2	Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
14 Apr 2022	Mendeliome v0.12884	CD79A	Zornitza Stark Phenotypes for gene: CD79A were changed from Agammaglobulinemia 3 MIM#613501 to Agammaglobulinaemia 3 MIM#613501
14 Apr 2022	Mendeliome v0.12883	PCCB	Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12883	PCCB	Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidaemia - MIM#606054
14 Apr 2022	Mendeliome v0.12882	PCCB	Zornitza Stark Publications for gene: PCCB were set to
14 Apr 2022	Mendeliome v0.12881	PCCB	Zornitza Stark Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12880	PCCA	Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
14 Apr 2022	Mendeliome v0.12880	PCCA	Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidaemia - MIM#606054
14 Apr 2022	Mendeliome v0.12879	PCCA	Zornitza Stark Publications for gene: PCCA were set to
14 Apr 2022	Mendeliome v0.12878	PCCA	Zornitza Stark Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
14 Apr 2022	Mendeliome v0.12877	FXR1	Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948 to Congenital multi-minicore myopathy; myopathy, congenital proximal, with minicore lesions MONDO:0032937
14 Apr 2022	Mendeliome v0.12876	FXR1	Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948
14 Apr 2022	Mendeliome v0.12875	FZD5	Bryony Thompson Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma MONDO:0001476
13 Apr 2022	Mendeliome v0.12874	PC	Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
13 Apr 2022	Mendeliome v0.12874	PC	Zornitza Stark Phenotypes for gene: PC were changed from to Pyruvate carboxylase deficiency - MIM#266150
13 Apr 2022	Mendeliome v0.12873	PC	Zornitza Stark Publications for gene: PC were set to
13 Apr 2022	Mendeliome v0.12872	PC	Zornitza Stark Mode of inheritance for gene: PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12871	PAX9	Zornitza Stark Gene: pax9 has been classified as Green List (High Evidence).
13 Apr 2022	Mendeliome v0.12871	PAX9	Zornitza Stark Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625
13 Apr 2022	Mendeliome v0.12870	PAX9	Zornitza Stark Publications for gene: PAX9 were set to
13 Apr 2022	Mendeliome v0.12869	PAX9	Zornitza Stark Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Mendeliome v0.12868	CD209	Zornitza Stark Mode of inheritance for gene: CD209 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Mendeliome v0.12867	CCR2	Zornitza Stark Mode of inheritance for gene: CCR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Mendeliome v0.12866	SET	Zornitza Stark Marked gene: SET as ready
13 Apr 2022	Mendeliome v0.12866	SET	Zornitza Stark Gene: set has been classified as Green List (High Evidence).
13 Apr 2022	Mendeliome v0.12866	SET	Zornitza Stark Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847
13 Apr 2022	Mendeliome v0.12865	SET	Zornitza Stark Publications for gene: SET were set to
13 Apr 2022	Mendeliome v0.12864	SET	Zornitza Stark Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Mendeliome v0.12863	SERPING1	Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
13 Apr 2022	Mendeliome v0.12863	SERPING1	Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790
13 Apr 2022	Mendeliome v0.12862	SERPING1	Zornitza Stark Publications for gene: SERPING1 were set to
13 Apr 2022	Mendeliome v0.12861	SERPING1	Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12860	FAM149B1	Bryony Thompson Phenotypes for gene: FAM149B1 were changed from Joubert; Ciliopathy to Joubert syndrome 36 MONDO:0032902; Ciliopathy
13 Apr 2022	Mendeliome v0.12859	SGCD	Samantha Ayres edited their review of gene: SGCD: Added comment: Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease. First described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018). Case-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort. Animal models demonstrate mild cardiomyopathy phenotype. Curated as 'limited' gene-disease association by ClinGen; Changed rating: RED; Changed publications: 10974018, 31983221, 23695275; Changed phenotypes: Cardiomyopathy, dilated, 1L, MIM#606685, dilated cardiomyopathy MONDO:0005021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Apr 2022	Mendeliome v0.12859	SGCD	Samantha Ayres reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 30733730, 10838250; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM#601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12859	SGCB	Samantha Ayres reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12859	SGCA	Samantha Ayres reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12859	SFXN4	Samantha Ayres reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2022	Mendeliome v0.12859	SFRP4	Samantha Ayres reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
12 Apr 2022	Mendeliome v0.12859	SERPIND1	Zornitza Stark Gene: serpind1 has been classified as Green List (High Evidence).
12 Apr 2022	Mendeliome v0.12859	SERPIND1	Zornitza Stark Phenotypes for gene: SERPIND1 were changed from to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356
12 Apr 2022	Mendeliome v0.12858	SERPIND1	Zornitza Stark Publications for gene: SERPIND1 were set to
12 Apr 2022	Mendeliome v0.12857	SERPIND1	Zornitza Stark Mode of inheritance for gene: SERPIND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Apr 2022	Mendeliome v0.12856	NOVA2	Zornitza Stark Phenotypes for gene: NOVA2 were changed from Intellectual disability; autism; hypotonia; spasticity; ataxia to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
12 Apr 2022	Mendeliome v0.12855	NOVA2	Zornitza Stark edited their review of gene: NOVA2: Changed phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
11 Apr 2022	Mendeliome v0.12855	RASGRP1	Crystle Lee reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30030704, 29155103, 28822832, 17675473; Phenotypes: Immunodeficiency 64 (MIM#618534); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12855	PDCD1	Krithika Murali changed review comment from: No OMIM gene disease association. 1 individual from a consanguineous family reported with PDCD1 deficiency. PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.; to: No OMIM gene disease association. 1 individual from a consanguineous family reported with PDCD1 deficiency. PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.
11 Apr 2022	Mendeliome v0.12855	PDCD1	Krithika Murali reviewed gene: PDCD1: Rating: RED; Mode of pathogenicity: None; Publications: 34183838; Phenotypes: ?PDCD1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12855	PCK2	Krithika Murali reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEPCK deficiency, mitochondrial - MIM#261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12855	CD79A	Ain Roesley Gene: cd79a has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12855	CD79A	Ain Roesley Phenotypes for gene: CD79A were changed from to Agammaglobulinemia 3 MIM#613501
11 Apr 2022	Mendeliome v0.12854	CD79A	Ain Roesley Publications for gene: CD79A were set to
11 Apr 2022	Mendeliome v0.12854	CD79A	Ain Roesley Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12853	CD79A	Ain Roesley reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinemia 3 MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12853	PCCB	Krithika Murali reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12853	CD70	Ain Roesley Gene: cd70 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12853	CD70	Ain Roesley Phenotypes for gene: CD70 were changed from to Lymphoproliferative syndrome 3, MIM# 618261
11 Apr 2022	Mendeliome v0.12852	CD70	Ain Roesley Publications for gene: CD70 were set to
11 Apr 2022	Mendeliome v0.12852	CD70	Ain Roesley Mode of inheritance for gene: CD70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12851	PCCA	Krithika Murali reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12851	CD70	Ain Roesley reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: None; Publications: 28011864, 28011863; Phenotypes: Lymphoproliferative syndrome 3, MIM# 618261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12851	CD55	Ain Roesley Gene: cd55 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12851	CD55	Ain Roesley Phenotypes for gene: CD55 were changed from to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
11 Apr 2022	Mendeliome v0.12850	CD55	Ain Roesley Publications for gene: CD55 were set to
11 Apr 2022	Mendeliome v0.12850	CD55	Ain Roesley Mode of inheritance for gene: CD55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12849	CD55	Ain Roesley reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: 28657829, 28657861; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12849	CD46	Ain Roesley Gene: cd46 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12849	CD46	Ain Roesley Phenotypes for gene: CD46 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922
11 Apr 2022	Mendeliome v0.12849	CD46	Ain Roesley Publications for gene: CD46 were set to
11 Apr 2022	Mendeliome v0.12849	CD46	Ain Roesley Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12848	CD46	Ain Roesley reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301541, 26054645, 26826462; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12848	PC	Krithika Murali reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657; Phenotypes: Pyruvate carboxylase deficiency - MIM#266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12848	CD40	Ain Roesley Gene: cd40 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12848	CD40	Ain Roesley Phenotypes for gene: CD40 were changed from to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
11 Apr 2022	Mendeliome v0.12847	CD40	Ain Roesley Publications for gene: CD40 were set to
11 Apr 2022	Mendeliome v0.12847	CD40	Ain Roesley Mode of inheritance for gene: CD40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12846	CD40	Ain Roesley reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: 11675497, 12915844; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12846	CD36	Ain Roesley Gene: cd36 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12846	CD36	Ain Roesley Phenotypes for gene: CD36 were changed from to Platelet glycoprotein IV deficiency MIM#608404; {Malaria, cerebral, reduced risk of} MIM#611162; {Malaria, cerebral, susceptibility to} MIM#611162
11 Apr 2022	Mendeliome v0.12845	CD36	Ain Roesley Publications for gene: CD36 were set to
11 Apr 2022	Mendeliome v0.12845	CD36	Ain Roesley Mode of inheritance for gene: CD36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12844	CD36	Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7686693, 11950861, 10890433, 24960640, 10890433; Phenotypes: Platelet glycoprotein IV deficiency MIM#608404, {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12844	CD36	Ain Roesley Deleted their review
11 Apr 2022	Mendeliome v0.12844	CD36	Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7533783, 11950861, 10890433, 12506336; Phenotypes: {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162, Platelet glycoprotein IV deficiency MIM#608404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12844	CD209	Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
11 Apr 2022	Mendeliome v0.12844	CD209	Ain Roesley Phenotypes for gene: CD209 were changed from to {Dengue fever, protection against} MIM#614371; {HIV type 1, susceptibility to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948
11 Apr 2022	Mendeliome v0.12844	CD209	Ain Roesley Classified gene: CD209 as Red List (low evidence)
11 Apr 2022	Mendeliome v0.12844	CD209	Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
11 Apr 2022	Mendeliome v0.12843	CD209	Ain Roesley reviewed gene: CD209: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dengue fever, protection against} MIM#614371, {HIV type 1, susceptibility to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948; Mode of inheritance: None; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12843	CD151	Ain Roesley Gene: cd151 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12843	CD151	Ain Roesley Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
11 Apr 2022	Mendeliome v0.12842	CD151	Ain Roesley Publications for gene: CD151 were set to
11 Apr 2022	Mendeliome v0.12842	CD151	Ain Roesley Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12841	CD151	Ain Roesley reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12841	CCR5	Ain Roesley Gene: ccr5 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12841	CCR5	Ain Roesley Phenotypes for gene: CCR5 were changed from to {Hepatitis C virus, resistance to} 609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM# 610379
11 Apr 2022	Mendeliome v0.12840	CCR5	Ain Roesley Mode of inheritance for gene: CCR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Apr 2022	Mendeliome v0.12839	CCR5	Ain Roesley reviewed gene: CCR5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hepatitis C virus, resistance to} 609532, {HIV infection, susceptibility/resistance to}, {West nile virus, susceptibility to}MIM# 610379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12839	CCR2	Ain Roesley Phenotypes for gene: CCR2 were changed from to {HIV infection, susceptibility/resistance to}
11 Apr 2022	Mendeliome v0.12839	CCR2	Ain Roesley Publications for gene: CCR2 were set to
11 Apr 2022	Mendeliome v0.12838	CCR2	Ain Roesley edited their review of gene: CCR2: Changed publications: 34516427, 17504215, 15167933, 17604544
11 Apr 2022	Mendeliome v0.12838	CCR2	Ain Roesley changed review comment from: Currently no mendelian gene-disease association; to: Vall64Ile has been associated with reduction in the progression to AIDS. Mutant results in normal expression levels of the CCR2 receptor and has no effect on the incidence of HIV infection. However, in contrast to normal CCR2 peptides, the mutant protein preferentially dimerizes with the CXCR4 polypeptide, isolating it in the endoplasmic reticulum. It is also thought that the inhibitory effect is dependent on the stages of HIV-1 infection and interactions with other genetic variants.
11 Apr 2022	Mendeliome v0.12838	CCR2	Ain Roesley edited their review of gene: CCR2: Changed phenotypes: {HIV infection, susceptibility/resistance to}
11 Apr 2022	Mendeliome v0.12838	CCR2	Ain Roesley Classified gene: CCR2 as Red List (low evidence)
11 Apr 2022	Mendeliome v0.12838	CCR2	Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
11 Apr 2022	Mendeliome v0.12837	CCR2	Ain Roesley Classified gene: CCR2 as Red List (low evidence)
11 Apr 2022	Mendeliome v0.12837	CCR2	Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
11 Apr 2022	Mendeliome v0.12836	CCR2	Ain Roesley Gene: ccr2 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12836	CCR2	Ain Roesley reviewed gene: CCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
11 Apr 2022	Mendeliome v0.12836	SLC25A12	Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
11 Apr 2022	Mendeliome v0.12836	SLC25A12	Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
11 Apr 2022	Mendeliome v0.12835	SLC25A12	Zornitza Stark Publications for gene: SLC25A12 were set to
11 Apr 2022	Mendeliome v0.12834	SLC25A12	Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
11 Apr 2022	Mendeliome v0.12833	SLC25A12	Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Apr 2022	Mendeliome v0.12833	SLC25A13	Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
10 Apr 2022	Mendeliome v0.12833	SLC25A13	Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM# 605814; Citrullinemia, adult-onset type II, MIM# 603471
10 Apr 2022	Mendeliome v0.12832	SLC25A13	Zornitza Stark Publications for gene: SLC25A13 were set to
10 Apr 2022	Mendeliome v0.12831	SLC25A13	Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
10 Apr 2022	Mendeliome v0.12830	SLC25A13	Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 21424115, 11343052; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814, Citrullinemia, adult-onset type II, MIM# 603471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Apr 2022	Mendeliome v0.12830	SLC25A15	Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
10 Apr 2022	Mendeliome v0.12830	SLC25A15	Zornitza Stark Phenotypes for gene: SLC25A15 were changed from to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970
10 Apr 2022	Mendeliome v0.12829	SLC25A15	Zornitza Stark Publications for gene: SLC25A15 were set to
10 Apr 2022	Mendeliome v0.12828	SLC25A15	Zornitza Stark Mode of inheritance for gene: SLC25A15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
10 Apr 2022	Mendeliome v0.12827	SLC25A15	Zornitza Stark reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930]; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12827	SLC25A19	Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12827	SLC25A19	Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
09 Apr 2022	Mendeliome v0.12826	SLC25A19	Zornitza Stark Publications for gene: SLC25A19 were set to
09 Apr 2022	Mendeliome v0.12825	SLC25A19	Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12824	SLC25A19	Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12824	SLC25A22	Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12824	SLC25A22	Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304
09 Apr 2022	Mendeliome v0.12823	SLC25A22	Zornitza Stark Publications for gene: SLC25A22 were set to
09 Apr 2022	Mendeliome v0.12822	SLC25A22	Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12821	SLC25A22	Zornitza Stark reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12821	TRPM1	Zornitza Stark Marked gene: TRPM1 as ready
09 Apr 2022	Mendeliome v0.12821	TRPM1	Zornitza Stark Gene: trpm1 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12821	TRPM1	Zornitza Stark Phenotypes for gene: TRPM1 were changed from to Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216
09 Apr 2022	Mendeliome v0.12820	TRPM1	Zornitza Stark Publications for gene: TRPM1 were set to
09 Apr 2022	Mendeliome v0.12819	TRPM1	Zornitza Stark Mode of inheritance for gene: TRPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12818	TRPM1	Zornitza Stark reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12818	TRPC6	Zornitza Stark Marked gene: TRPC6 as ready
09 Apr 2022	Mendeliome v0.12818	TRPC6	Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12818	TRPC6	Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
09 Apr 2022	Mendeliome v0.12817	TRPC6	Zornitza Stark Publications for gene: TRPC6 were set to
09 Apr 2022	Mendeliome v0.12816	TRPC6	Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Apr 2022	Mendeliome v0.12815	TRPC6	Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Apr 2022	Mendeliome v0.12815	TRAPPC2	Zornitza Stark Marked gene: TRAPPC2 as ready
09 Apr 2022	Mendeliome v0.12815	TRAPPC2	Zornitza Stark Gene: trappc2 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12815	TRAPPC2	Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from to Spondyloepiphyseal dysplasia tarda, MIM# 313400
09 Apr 2022	Mendeliome v0.12814	TRAPPC2	Zornitza Stark Publications for gene: TRAPPC2 were set to
09 Apr 2022	Mendeliome v0.12813	TRAPPC2	Zornitza Stark Mode of inheritance for gene: TRAPPC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
09 Apr 2022	Mendeliome v0.12812	TRAPPC2	Zornitza Stark reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
09 Apr 2022	Mendeliome v0.12812	TRAPPC12	Zornitza Stark Marked gene: TRAPPC12 as ready
09 Apr 2022	Mendeliome v0.12812	TRAPPC12	Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12812	TRAPPC11	Zornitza Stark Marked gene: TRAPPC11 as ready
09 Apr 2022	Mendeliome v0.12812	TRAPPC11	Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12812	TRAPPC11	Zornitza Stark Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
09 Apr 2022	Mendeliome v0.12811	TRAPPC11	Zornitza Stark Publications for gene: TRAPPC11 were set to
09 Apr 2022	Mendeliome v0.12810	TRAPPC11	Zornitza Stark Mode of inheritance for gene: TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12809	TRAPPC11	Zornitza Stark reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12809	TRAK1	Zornitza Stark Marked gene: TRAK1 as ready
09 Apr 2022	Mendeliome v0.12809	TRAK1	Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12809	TRAK1	Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201
09 Apr 2022	Mendeliome v0.12808	TRAK1	Zornitza Stark Publications for gene: TRAK1 were set to
09 Apr 2022	Mendeliome v0.12807	TRAK1	Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12806	TRAK1	Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532, 28924745; Phenotypes: Developmental and epileptic encephalopathy 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12806	TPMT	Zornitza Stark Marked gene: TPMT as ready
09 Apr 2022	Mendeliome v0.12806	TPMT	Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
09 Apr 2022	Mendeliome v0.12806	TPMT	Zornitza Stark Phenotypes for gene: TPMT were changed from to {Thiopurines, poor metabolism of, 1} 610460
09 Apr 2022	Mendeliome v0.12805	TPMT	Zornitza Stark Classified gene: TPMT as Red List (low evidence)
09 Apr 2022	Mendeliome v0.12805	TPMT	Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
09 Apr 2022	Mendeliome v0.12804	TPMT	Zornitza Stark reviewed gene: TPMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Thiopurines, poor metabolism of, 1} 610460; Mode of inheritance: None
09 Apr 2022	Mendeliome v0.12804	TRNT1	Zornitza Stark Marked gene: TRNT1 as ready
09 Apr 2022	Mendeliome v0.12804	TRNT1	Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12804	TRNT1	Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
09 Apr 2022	Mendeliome v0.12803	TRNT1	Zornitza Stark Publications for gene: TRNT1 were set to
09 Apr 2022	Mendeliome v0.12802	TRNT1	Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12801	TRNT1	Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523, 26494905; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12801	TRMU	Zornitza Stark Marked gene: TRMU as ready
09 Apr 2022	Mendeliome v0.12801	TRMU	Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12801	TRMU	Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
09 Apr 2022	Mendeliome v0.12800	TRMU	Zornitza Stark Publications for gene: TRMU were set to
09 Apr 2022	Mendeliome v0.12799	TRMU	Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12798	TRMU	Zornitza Stark reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12798	TRMT5	Zornitza Stark Marked gene: TRMT5 as ready
09 Apr 2022	Mendeliome v0.12798	TRMT5	Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12798	TRMT5	Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
09 Apr 2022	Mendeliome v0.12797	TRMT5	Zornitza Stark Publications for gene: TRMT5 were set to
09 Apr 2022	Mendeliome v0.12796	TRMT5	Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12795	TRMT5	Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2022	Mendeliome v0.12795	EYS	Bryony Thompson reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18836446, 18976725, 34689181; Phenotypes: retinitis pigmentosa 25 MONDO:0011272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
09 Apr 2022	Mendeliome v0.12795	EXT1	Bryony Thompson Publications for gene: EXT1 were set to
09 Apr 2022	Mendeliome v0.12794	EXT1	Bryony Thompson Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Apr 2022	Mendeliome v0.12793	ETV1	Bryony Thompson Marked gene: ETV1 as ready
09 Apr 2022	Mendeliome v0.12793	ETV1	Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
09 Apr 2022	Mendeliome v0.12793	EXT1	Bryony Thompson reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 8981950, 20534475; Phenotypes: hereditary multiple osteochondromas MONDO:0005508, exostoses, multiple, type 1 MONDO:0007585; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
09 Apr 2022	Mendeliome v0.12793	ETV1	Bryony Thompson Publications for gene: ETV1 were set to
09 Apr 2022	Mendeliome v0.12792	EXOC7	Bryony Thompson Phenotypes for gene: EXOC7 were changed from brain atrophy; seizures; developmental delay; microcephaly to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; brain atrophy; seizures; developmental delay; microcephaly
09 Apr 2022	Mendeliome v0.12791	ETV1	Bryony Thompson Classified gene: ETV1 as Red List (low evidence)
09 Apr 2022	Mendeliome v0.12791	ETV1	Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
09 Apr 2022	Mendeliome v0.12790	EXOC3L2	Bryony Thompson Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation, MONDO:0009072; renal dysplasia; bone marrow failure
09 Apr 2022	Mendeliome v0.12789	ETV1	Bryony Thompson reviewed gene: ETV1: Rating: RED; Mode of pathogenicity: None; Publications: 16254181, 34430591; Phenotypes: ; Mode of inheritance: Unknown
09 Apr 2022	Mendeliome v0.12789	ETFDH	Bryony Thompson Marked gene: ETFDH as ready
09 Apr 2022	Mendeliome v0.12789	ETFDH	Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
09 Apr 2022	Mendeliome v0.12789	ETFDH	Bryony Thompson Phenotypes for gene: ETFDH were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
09 Apr 2022	Mendeliome v0.12788	ETFDH	Bryony Thompson Publications for gene: ETFDH were set to
08 Apr 2022	Mendeliome v0.12787	SET	Samantha Ayres reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: None
08 Apr 2022	Mendeliome v0.12787	SERPING1	Samantha Ayres reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35386643, 31517426, 29753808; Phenotypes: Angioedema, hereditary, 1 and 2, MIM#106100, Complement component 4, partial deficiency of, MIM#120790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
08 Apr 2022	Mendeliome v0.12787	SERPIND1	Samantha Ayres reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2863444, 8902986, 2647747, 15337701, 31064749, 11204559, 8562924, 29296762; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Apr 2022	Mendeliome v0.12787	TRMT10C	Zornitza Stark Marked gene: TRMT10C as ready
08 Apr 2022	Mendeliome v0.12787	TRMT10C	Zornitza Stark Gene: trmt10c has been classified as Green List (High Evidence).
08 Apr 2022	Mendeliome v0.12787	TRMT10C	Zornitza Stark Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974
08 Apr 2022	Mendeliome v0.12786	TRMT10C	Zornitza Stark Publications for gene: TRMT10C were set to
08 Apr 2022	Mendeliome v0.12785	TRMT10C	Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
08 Apr 2022	Mendeliome v0.12784	TRMT10C	Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Apr 2022	Mendeliome v0.12784	PDHA2	Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence).
08 Apr 2022	Mendeliome v0.12784	PDHA2	Zornitza Stark gene: PDHA2 was added gene: PDHA2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHA2 were set to 29581481; 35172124 Phenotypes for gene: PDHA2 were set to Spermatogenic failure-70, MIM#619828 Review for gene: PDHA2 was set to RED Added comment: Three individuals reported from different families with same homozygous missense variant. Same ethnic background, likely founder effect. Sources: Literature
07 Apr 2022	Mendeliome v0.12783	TRDN	Zornitza Stark Marked gene: TRDN as ready
07 Apr 2022	Mendeliome v0.12783	TRDN	Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12783	TRDN	Zornitza Stark Phenotypes for gene: TRDN were changed from to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
07 Apr 2022	Mendeliome v0.12782	TRDN	Zornitza Stark Publications for gene: TRDN were set to
07 Apr 2022	Mendeliome v0.12781	TRDN	Zornitza Stark Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12780	TRDN	Zornitza Stark reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12780	TRHR	Zornitza Stark Marked gene: TRHR as ready
07 Apr 2022	Mendeliome v0.12780	TRHR	Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12780	TRHR	Zornitza Stark Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
07 Apr 2022	Mendeliome v0.12779	TRHR	Zornitza Stark Publications for gene: TRHR were set to
07 Apr 2022	Mendeliome v0.12778	TRHR	Zornitza Stark Mode of inheritance for gene: TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12777	TRHR	Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12777	TRIM37	Zornitza Stark Marked gene: TRIM37 as ready
07 Apr 2022	Mendeliome v0.12777	TRIM37	Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12777	TRIM37	Zornitza Stark Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism, MIM# 253250
07 Apr 2022	Mendeliome v0.12776	TRIM37	Zornitza Stark Publications for gene: TRIM37 were set to
07 Apr 2022	Mendeliome v0.12775	TRIM37	Zornitza Stark Mode of inheritance for gene: TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12774	TRIM37	Zornitza Stark reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism, MIM# 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12774	TRIM32	Zornitza Stark Marked gene: TRIM32 as ready
07 Apr 2022	Mendeliome v0.12774	TRIM32	Zornitza Stark Gene: trim32 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12774	TRIM32	Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
07 Apr 2022	Mendeliome v0.12773	TRIM32	Zornitza Stark Publications for gene: TRIM32 were set to
07 Apr 2022	Mendeliome v0.12772	TRIM32	Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12771	TRIM32	Zornitza Stark changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006. LIMITED.
07 Apr 2022	Mendeliome v0.12771	TRIM32	Zornitza Stark edited their review of gene: TRIM32: Added comment: >3 unrelated cases with myopathy, adult onset reported; Changed rating: GREEN; Changed publications: 16606853, 31309175, 11822024; Changed phenotypes: Bardet-Biedl syndrome 11, MIM# 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
07 Apr 2022	Mendeliome v0.12771	TRPM4	Zornitza Stark Marked gene: TRPM4 as ready
07 Apr 2022	Mendeliome v0.12771	TRPM4	Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12771	TRPM4	Zornitza Stark Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB, MIM# 604559; Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
07 Apr 2022	Mendeliome v0.12770	TRPM4	Zornitza Stark Publications for gene: TRPM4 were set to
07 Apr 2022	Mendeliome v0.12769	TRPM4	Zornitza Stark Mode of inheritance for gene: TRPM4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12768	TRPM4	Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
07 Apr 2022	Mendeliome v0.12768	TRPM4	Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12767	TRPM4	Zornitza Stark reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19726882, 20562447, 21887725, 20562447, 35205305, 34897640, 30528822; Phenotypes: Progressive familial heart block, type IB, MIM# 604559, Erythrokeratodermia variabilis et progressiva 6 618531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12767	TRPV4	Zornitza Stark Marked gene: TRPV4 as ready
07 Apr 2022	Mendeliome v0.12767	TRPV4	Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12767	TRPV4	Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
07 Apr 2022	Mendeliome v0.12766	TRPV4	Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12765	TTPA	Zornitza Stark Marked gene: TTPA as ready
07 Apr 2022	Mendeliome v0.12765	TTPA	Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12765	TTPA	Zornitza Stark Phenotypes for gene: TTPA were changed from to Ataxia with isolated vitamin E deficiency, MIM# 277460
07 Apr 2022	Mendeliome v0.12764	TTPA	Zornitza Stark Publications for gene: TTPA were set to
07 Apr 2022	Mendeliome v0.12763	TTPA	Zornitza Stark Mode of inheritance for gene: TTPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12762	TTC19	Zornitza Stark Marked gene: TTC19 as ready
07 Apr 2022	Mendeliome v0.12762	TTC19	Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12762	TTC19	Zornitza Stark Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
07 Apr 2022	Mendeliome v0.12761	TTC19	Zornitza Stark Publications for gene: TTC19 were set to
07 Apr 2022	Mendeliome v0.12760	TTC19	Zornitza Stark Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12759	TTC19	Zornitza Stark Deleted their comment
07 Apr 2022	Mendeliome v0.12759	TTC19	Zornitza Stark edited their review of gene: TTC19: Added comment: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances. At least 4 unrelated families reported.; Changed publications: 21278747, 23532514, 24368687, 24397319
07 Apr 2022	Mendeliome v0.12759	TSFM	Zornitza Stark Marked gene: TSFM as ready
07 Apr 2022	Mendeliome v0.12759	TSFM	Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12759	TSFM	Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505
07 Apr 2022	Mendeliome v0.12758	TSFM	Zornitza Stark Publications for gene: TSFM were set to
07 Apr 2022	Mendeliome v0.12757	TSFM	Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12756	PAX9	Krithika Murali reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615120, 16479262; Phenotypes: Tooth agenesis, selective, 3 - MIM#604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12756	TSFM	Zornitza Stark changed review comment from: Ataxia is a reported feature of this mitochondrial disorder.; to: At least 5 families reported, however 3 had the same homozygous variant, ?founder.
07 Apr 2022	Mendeliome v0.12756	TSFM	Zornitza Stark edited their review of gene: TSFM: Changed publications: 25037205, 22499341
07 Apr 2022	Mendeliome v0.12756	TPK1	Zornitza Stark Marked gene: TPK1 as ready
07 Apr 2022	Mendeliome v0.12756	TPK1	Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12756	TPK1	Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
07 Apr 2022	Mendeliome v0.12755	TPK1	Zornitza Stark Publications for gene: TPK1 were set to
07 Apr 2022	Mendeliome v0.12754	TPK1	Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12753	TPK1	Zornitza Stark reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152682, 33626592, 33231275, 33086386; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12753	TP63	Zornitza Stark Marked gene: TP63 as ready
07 Apr 2022	Mendeliome v0.12753	TP63	Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12753	TP63	Zornitza Stark Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
07 Apr 2022	Mendeliome v0.12752	TP63	Zornitza Stark Publications for gene: TP63 were set to
07 Apr 2022	Mendeliome v0.12751	TP63	Zornitza Stark Mode of inheritance for gene: TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12750	TP63	Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 20556892; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12750	TOR1A	Zornitza Stark Marked gene: TOR1A as ready
07 Apr 2022	Mendeliome v0.12750	TOR1A	Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12750	TOR1A	Zornitza Stark Phenotypes for gene: TOR1A were changed from to Arthrogryposis multiplex congenita, MIM#618947; Dystonia-1, torsion, MIM#128100
07 Apr 2022	Mendeliome v0.12749	TOR1A	Zornitza Stark Publications for gene: TOR1A were set to
07 Apr 2022	Mendeliome v0.12748	TOR1A	Zornitza Stark Mode of inheritance for gene: TOR1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12747	TOR1A	Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244176, 9288096, 19955557, 18477710, 32243914, 31583275, 31347572; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947, Dystonia-1, torsion, MIM#128100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12747	TNXB	Zornitza Stark Marked gene: TNXB as ready
07 Apr 2022	Mendeliome v0.12747	TNXB	Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12747	TNXB	Zornitza Stark Phenotypes for gene: TNXB were changed from to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408
07 Apr 2022	Mendeliome v0.12746	TNXB	Zornitza Stark Publications for gene: TNXB were set to
07 Apr 2022	Mendeliome v0.12745	TNXB	Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12744	TNXB	Zornitza Stark reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12744	TNPO3	Zornitza Stark Marked gene: TNPO3 as ready
07 Apr 2022	Mendeliome v0.12744	TNPO3	Zornitza Stark Gene: tnpo3 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12744	TNPO3	Zornitza Stark Phenotypes for gene: TNPO3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423
07 Apr 2022	Mendeliome v0.12743	TNPO3	Zornitza Stark Publications for gene: TNPO3 were set to
07 Apr 2022	Mendeliome v0.12742	TNPO3	Zornitza Stark Mode of inheritance for gene: TNPO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12741	TNPO3	Zornitza Stark reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23667635, 23543484, 31071488, 31192305; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12741	RSPO2	Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12741	RSPO2	Zornitza Stark Phenotypes for gene: RSPO2 were changed from to Tetraamelia syndrome 2, MIM# 618021
07 Apr 2022	Mendeliome v0.12740	RSPO2	Zornitza Stark Publications for gene: RSPO2 were set to
07 Apr 2022	Mendeliome v0.12739	RSPO2	Zornitza Stark Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12738	PIGA	Zornitza Stark changed review comment from: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; to: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.
07 Apr 2022	Mendeliome v0.12738	PIGA	Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
07 Apr 2022	Mendeliome v0.12737	PIGA	Zornitza Stark edited their review of gene: PIGA: Added comment: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
07 Apr 2022	Mendeliome v0.12737	CACNA2D1	Zornitza Stark reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12737	SLC35B2	Zornitza Stark Phenotypes for gene: SLC35B2 were changed from chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability to Leukodystrophy, MONDO:0019046, SLC35B2-related
07 Apr 2022	Mendeliome v0.12736	ATP11A	Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Neurological disorder; Deafness, autosomal dominant 84 MIM#619810
07 Apr 2022	Mendeliome v0.12735	ATP11A	Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372
07 Apr 2022	Mendeliome v0.12734	ATP11A	Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12733	TNNC1	Zornitza Stark Marked gene: TNNC1 as ready
07 Apr 2022	Mendeliome v0.12733	TNNC1	Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12733	CACNA2D1	Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12733	CACNA2D1	Alison Yeung Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
07 Apr 2022	Mendeliome v0.12732	CACNA2D1	Alison Yeung Classified gene: CACNA2D1 as Green List (high evidence)
07 Apr 2022	Mendeliome v0.12732	CACNA2D1	Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12731	TTC21B	Dean Phelan edited their review of gene: TTC21B: Added comment: Correcting typographical error; Changed phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related
07 Apr 2022	Mendeliome v0.12731	CACNA2D1	Michelle Torres gene: CACNA2D1 was added gene: CACNA2D1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D1 were set to 35293990 Phenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related Review for gene: CACNA2D1 was set to GREEN Added comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale. Patient 1 is homozygous for p.(Ser275Asnfs13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts Patient 2 is cHet for p.(Leu9Alafs5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function. Sources: Literature
07 Apr 2022	Mendeliome v0.12731	TTC21B	Dean Phelan edited their review of gene: TTC21B: Added comment: Updated to include additional publications linking glomerular disorder.; Changed rating: GREEN; Changed publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Changed phenotypes: Glomerular disorder (MONOD:0019722), TTC21B-related
07 Apr 2022	Mendeliome v0.12731	TRAPPC10	Zornitza Stark Marked gene: TRAPPC10 as ready
07 Apr 2022	Mendeliome v0.12731	TRAPPC10	Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12731	TRAPPC10	Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
07 Apr 2022	Mendeliome v0.12731	TRAPPC10	Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12730	TNNC1	Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
07 Apr 2022	Mendeliome v0.12729	TTC21B	Zornitza Stark Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome; Glomerular disorder MONDO:0019722, TTC21B-related
07 Apr 2022	Mendeliome v0.12728	RSPO2	Belinda Chong reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
07 Apr 2022	Mendeliome v0.12728	TRAPPC10	Naomi Baker gene: TRAPPC10 was added gene: TRAPPC10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849 Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related Review for gene: TRAPPC10 was set to GREEN Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines. PMID: 30167849 – initial report of family 2 above. Sources: Literature
07 Apr 2022	Mendeliome v0.12728	FUZ	Zornitza Stark Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to} MIM#182940 to {Neural tube defects, susceptibility to} MIM#182940; craniosynostosis, FUZ-related MONDO#0015469
07 Apr 2022	Mendeliome v0.12727	FUZ	Zornitza Stark Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12726	ATP11A	Paul De Fazio reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84 MIM#619810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
07 Apr 2022	Mendeliome v0.12726	FUZ	Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: craniosynostosis, FUZ-related MONDO#0015469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12726	MDFIC	Belinda Chong edited their review of gene: MDFIC: Changed phenotypes: Hydrops fetalis MONDO:0015193
07 Apr 2022	Mendeliome v0.12726	TNNI1	Zornitza Stark Marked gene: TNNI1 as ready
07 Apr 2022	Mendeliome v0.12726	TNNI1	Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12726	TNNI1	Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
07 Apr 2022	Mendeliome v0.12726	TNNI1	Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12725	TNNI1	Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
07 Apr 2022	Mendeliome v0.12724	SLC35B2	Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12724	SLC35B2	Alison Yeung Classified gene: SLC35B2 as Amber List (moderate evidence)
07 Apr 2022	Mendeliome v0.12724	SLC35B2	Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12723	FUZ	Anna Ritchie Deleted their review
07 Apr 2022	Mendeliome v0.12723	FUZ	Anna Ritchie commented on gene: FUZ
07 Apr 2022	Mendeliome v0.12723	ATP2B1	Zornitza Stark Marked gene: ATP2B1 as ready
07 Apr 2022	Mendeliome v0.12723	ATP2B1	Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12723	ATP2B1	Zornitza Stark Classified gene: ATP2B1 as Green List (high evidence)
07 Apr 2022	Mendeliome v0.12723	ATP2B1	Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12722	FUZ	Anna Ritchie Deleted their review
07 Apr 2022	Mendeliome v0.12722	SLC35B2	Melanie Marty changed review comment from: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature; to: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature
07 Apr 2022	Mendeliome v0.12722	ATP2B1	Zornitza Stark Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental delay; autism; seizures; distal limb abnormalities to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related
07 Apr 2022	Mendeliome v0.12721	ADAM22	Alison Yeung Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)
07 Apr 2022	Mendeliome v0.12721	ADAM22	Alison Yeung Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)
07 Apr 2022	Mendeliome v0.12720	MDFIC	Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12720	TTC21B	Dean Phelan reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35289079; Phenotypes: early onset hypertension, proteinuria, progressive kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12720	FUZ	Anna Ritchie changed review comment from: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.; to: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.
07 Apr 2022	Mendeliome v0.12720	ADAM22	Alison Yeung Publications for gene: ADAM22 were set to 27066583; 30237576
07 Apr 2022	Mendeliome v0.12719	ADAM22	Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
07 Apr 2022	Mendeliome v0.12719	ADAM22	Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12718	MDFIC	Zornitza Stark Phenotypes for gene: MDFIC were changed from Central conducting lymphatic anomaly with lymphedema to Hydrops fetalis MONDO:0015193
07 Apr 2022	Mendeliome v0.12717	MDFIC	Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
07 Apr 2022	Mendeliome v0.12717	MDFIC	Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12716	FUZ	Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12716	TNNC1	Zornitza Stark Publications for gene: TNNC1 were set to
07 Apr 2022	Mendeliome v0.12715	TNNC1	Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12714	TNNI1	Krithika Murali gene: TNNI1 was added gene: TNNI1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNI1 were set to 34934811 Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures Review for gene: TNNI1 was set to AMBER Added comment: No OMIM gene disease association reported PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant. The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming. Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK. The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts. Sources: Literature
07 Apr 2022	Mendeliome v0.12714	TNNC1	Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879, Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12714	SLC35B2	Melanie Marty gene: SLC35B2 was added gene: SLC35B2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to PMID: 35325049 Phenotypes for gene: SLC35B2 were set to chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability Review for gene: SLC35B2 was set to AMBER Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature
07 Apr 2022	Mendeliome v0.12714	AHSG	Elena Savva gene: AHSG was added gene: AHSG was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AHSG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHSG were set to PMID: 28054173; 9395485; 31288248; 17389622 Phenotypes for gene: AHSG were set to ?Alopecia-intellectual disability syndrome 1 MIM#203650; infantile cortical hyperostosis Review for gene: AHSG was set to RED Added comment: PMID: 28054173 - 7 relatives within a large consanguinous fam w/ alopecia and ID, and a hom missense (p.Arg317His). Modelling predicts this variant to be a phosphorylation site, functional studies show a difference in protein size. Unclear biological significance. Alt change with stronger GS (p.(Arg317Cys)) is a common poly with 19 homozygotes in gnomAD. No hom PTCs in gnomAD PMID: 9395485 - K/O mouse model shows no gross anatomical abnormalities, were fertile and "healthy". No mentioned of ID, alopecia PMID: 17389622 - K/O mouse model on the calcification resistant genetic background C57BL/6, shows uraemia and phosphate challenge. No mentioned of ID, alopecia PMID: 31288248 - 1 hom infant (p.K2*, within 5' NMD escape region) with infantile cortical hyperostosis, loss of enzyme in patient serum shown by ELISA. No mentioned of ID, alopecia Sources: Literature
07 Apr 2022	Mendeliome v0.12713	ADAM22	Lucy Spencer reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12713	VPS16	Ain Roesley Phenotypes for gene: VPS16 were changed from Dystonia 30, MIM#619291 to Dystonia 30, MIM#619291; mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
07 Apr 2022	Mendeliome v0.12712	VPS16	Ain Roesley Publications for gene: VPS16 were set to 32808683
07 Apr 2022	Mendeliome v0.12712	VPS16	Ain Roesley Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12711	MDFIC	Belinda Chong gene: MDFIC was added gene: MDFIC was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to 35235341 Phenotypes for gene: MDFIC were set to Central conducting lymphatic anomaly with lymphedema Review for gene: MDFIC was set to GREEN Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. Sources: Literature
07 Apr 2022	Mendeliome v0.12711	ATP2B1	Daniel Flanagan gene: ATP2B1 was added gene: ATP2B1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2B1 were set to PMID: 35358416 Phenotypes for gene: ATP2B1 were set to Neurodevelopmental delay; autism; seizures; distal limb abnormalities Review for gene: ATP2B1 was set to GREEN Added comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense. Sources: Expert list
07 Apr 2022	Mendeliome v0.12711	VPS16	Ain Roesley changed review comment from: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below; to: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below PMID:34901436 suggests dystonia is transcript specific
07 Apr 2022	Mendeliome v0.12711	VPS16	Ain Roesley edited their review of gene: VPS16: Changed publications: 33938619, 34013567, 34901436
07 Apr 2022	Mendeliome v0.12711	VPS16	Ain Roesley changed review comment from: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x het p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below; to: for AR MPS: 3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys RNA and functional studies done on the splice variant for AD see review below
07 Apr 2022	Mendeliome v0.12711	TNFSF4	Zornitza Stark Marked gene: TNFSF4 as ready
07 Apr 2022	Mendeliome v0.12711	TNFSF4	Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
07 Apr 2022	Mendeliome v0.12711	TNFSF4	Zornitza Stark Phenotypes for gene: TNFSF4 were changed from to {Myocardial infarction, susceptibility to} 608446
07 Apr 2022	Mendeliome v0.12710	TNFSF4	Zornitza Stark Mode of inheritance for gene: TNFSF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12709	VPS16	Ain Roesley reviewed gene: VPS16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33938619, 34013567; Phenotypes: mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
07 Apr 2022	Mendeliome v0.12709	TNFSF4	Zornitza Stark Classified gene: TNFSF4 as Red List (low evidence)
07 Apr 2022	Mendeliome v0.12709	TNFSF4	Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
07 Apr 2022	Mendeliome v0.12708	TNFSF4	Zornitza Stark reviewed gene: TNFSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Myocardial infarction, susceptibility to} 608446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12708	TNFSF11	Zornitza Stark Marked gene: TNFSF11 as ready
07 Apr 2022	Mendeliome v0.12708	TNFSF11	Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12708	TNFSF11	Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710
07 Apr 2022	Mendeliome v0.12707	TNFSF11	Zornitza Stark Publications for gene: TNFSF11 were set to
07 Apr 2022	Mendeliome v0.12706	TNFSF11	Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12705	TNFSF11	Zornitza Stark edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520
07 Apr 2022	Mendeliome v0.12705	TNFSF11	Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple families and mouse model.
07 Apr 2022	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
07 Apr 2022	Mendeliome v0.12705	TNFRSF11B	Zornitza Stark Marked gene: TNFRSF11B as ready
07 Apr 2022	Mendeliome v0.12705	TNFRSF11B	Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12705	TNFRSF11B	Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000
07 Apr 2022	Mendeliome v0.12704	TNFRSF11B	Zornitza Stark Publications for gene: TNFRSF11B were set to
07 Apr 2022	Mendeliome v0.12703	TNFRSF11B	Zornitza Stark Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	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
07 Apr 2022	Mendeliome v0.12702	TMEM240	Zornitza Stark Marked gene: TMEM240 as ready
07 Apr 2022	Mendeliome v0.12702	TMEM240	Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12702	TMEM240	Zornitza Stark Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM# 607454
07 Apr 2022	Mendeliome v0.12701	TMEM240	Zornitza Stark Publications for gene: TMEM240 were set to
07 Apr 2022	Mendeliome v0.12700	TMEM240	Zornitza Stark Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12699	TMEM127	Zornitza Stark Marked gene: TMEM127 as ready
07 Apr 2022	Mendeliome v0.12699	TMEM127	Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12699	TMEM127	Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to} 171300
07 Apr 2022	Mendeliome v0.12698	TMEM127	Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12697	TMEM127	Zornitza Stark reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to} 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12697	TMEM126B	Zornitza Stark Marked gene: TMEM126B as ready
07 Apr 2022	Mendeliome v0.12697	TMEM126B	Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12697	TMEM126B	Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
07 Apr 2022	Mendeliome v0.12696	TMEM126B	Zornitza Stark Publications for gene: TMEM126B were set to
07 Apr 2022	Mendeliome v0.12695	TMEM126B	Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12694	TMEM126B	Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12694	TMEM106B	Zornitza Stark Marked gene: TMEM106B as ready
07 Apr 2022	Mendeliome v0.12694	TMEM106B	Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12694	TMEM106B	Zornitza Stark Phenotypes for gene: TMEM106B were changed from to Leukodystrophy, hypomyelinating, 16, MIM# 617964
07 Apr 2022	Mendeliome v0.12693	TMEM106B	Zornitza Stark Publications for gene: TMEM106B were set to
07 Apr 2022	Mendeliome v0.12692	TMEM106B	Zornitza Stark Mode of inheritance for gene: TMEM106B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Apr 2022	Mendeliome v0.12691	TMEM106B	Zornitza Stark changed review comment from: Cerebellar signs including ataxia prominent.; to: Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum. At least 5 unrelated individuals reported.
07 Apr 2022	Mendeliome v0.12691	RAPSN	Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12691	RAPSN	Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2 (MIM#618388); Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
07 Apr 2022	Mendeliome v0.12690	RAPSN	Zornitza Stark Publications for gene: RAPSN were set to
07 Apr 2022	Mendeliome v0.12689	RAPSN	Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12688	RAD51C	Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12688	RAD51C	Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anaemia, complementation group O (MIM#613390)
07 Apr 2022	Mendeliome v0.12687	RAD51C	Zornitza Stark Publications for gene: RAD51C were set to
07 Apr 2022	Mendeliome v0.12686	LIG3	Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
07 Apr 2022	Mendeliome v0.12685	RAD51C	Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
07 Apr 2022	Mendeliome v0.12684	SLC25A26	Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
07 Apr 2022	Mendeliome v0.12684	LIG3	Zornitza Stark edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
07 Apr 2022	Mendeliome v0.12684	GGN	Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
07 Apr 2022	Mendeliome v0.12684	GGN	Zornitza Stark Classified gene: GGN as Amber List (moderate evidence)
07 Apr 2022	Mendeliome v0.12684	GGN	Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
06 Apr 2022	Mendeliome v0.12683	GGN	Zornitza Stark gene: GGN was added gene: GGN was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGN were set to 31985809; 33108537 Phenotypes for gene: GGN were set to Spermatogenic failure 69, MIM# 619826 Review for gene: GGN was set to AMBER Added comment: Three individuals from two unrelated families reported. Sources: Literature
06 Apr 2022	Mendeliome v0.12682	SLC25A26	Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
06 Apr 2022	Mendeliome v0.12681	SLC25A26	Zornitza Stark Publications for gene: SLC25A26 were set to
06 Apr 2022	Mendeliome v0.12680	SLC25A26	Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12679	SLC25A26	Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12679	SLC25A3	Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12679	SLC25A3	Zornitza Stark Publications for gene: SLC25A3 were set to
06 Apr 2022	Mendeliome v0.12678	SLC25A3	Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
06 Apr 2022	Mendeliome v0.12677	SLC25A3	Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12676	SLC25A3	Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12676	RAPSN	Crystle Lee reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226, 19620612, 22482962, 28495245, 18179903, 28495245; Phenotypes: Fetal akinesia deformation sequence 2 (MIM#618388), Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12676	RAD51C	Crystle Lee reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963, 22167183; Phenotypes: Fanconi anemia, complementation group O (MIM#613390); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12676	SLC25A4	Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12676	SLC25A4	Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
06 Apr 2022	Mendeliome v0.12675	SLC25A4	Zornitza Stark Publications for gene: SLC25A4 were set to
06 Apr 2022	Mendeliome v0.12674	SLC25A4	Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12673	SLC25A4	Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12673	SLC25A42	Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12673	SLC25A42	Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
06 Apr 2022	Mendeliome v0.12672	SLC25A42	Zornitza Stark Publications for gene: SLC25A42 were set to
06 Apr 2022	Mendeliome v0.12671	SLC25A42	Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12670	SLC25A42	Zornitza Stark Tag founder tag was added to gene: SLC25A42.
06 Apr 2022	Mendeliome v0.12670	SLC25A42	Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12670	SLC2A10	Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12670	SLC2A10	Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
06 Apr 2022	Mendeliome v0.12669	SLC2A10	Zornitza Stark Publications for gene: SLC2A10 were set to
06 Apr 2022	Mendeliome v0.12668	SLC2A10	Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12667	SLC2A10	Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12667	SLC2A2	Zornitza Stark changed review comment from: Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. > 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.; to: Fanconi-Bickel syndrome is characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. > 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.
06 Apr 2022	Mendeliome v0.12667	SLC2A2	Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12667	SLC2A2	Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
06 Apr 2022	Mendeliome v0.12666	SLC2A2	Zornitza Stark Publications for gene: SLC2A2 were set to
06 Apr 2022	Mendeliome v0.12665	SLC2A2	Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12664	SLC2A2	Zornitza Stark reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12664	SLC2A3	Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12664	SLC2A3	Zornitza Stark Classified gene: SLC2A3 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12664	SLC2A3	Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12663	SLC2A3	Zornitza Stark reviewed gene: SLC2A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Apr 2022	Mendeliome v0.12663	SLC2A4	Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12663	SLC2A4	Zornitza Stark Classified gene: SLC2A4 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12663	SLC2A4	Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12662	SLC2A4	Zornitza Stark reviewed gene: SLC2A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Apr 2022	Mendeliome v0.12662	SORT1	Zornitza Stark Marked gene: SORT1 as ready
06 Apr 2022	Mendeliome v0.12662	SORT1	Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12662	SORT1	Zornitza Stark Phenotypes for gene: SORT1 were changed from to Low density lipoprotein cholesterol level QTL6] 613589
06 Apr 2022	Mendeliome v0.12661	SORT1	Zornitza Stark Mode of inheritance for gene: SORT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12660	SORT1	Zornitza Stark Classified gene: SORT1 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12660	SORT1	Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12659	SORT1	Zornitza Stark reviewed gene: SORT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Low density lipoprotein cholesterol level QTL6] 613589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12659	SOX10	Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12659	SOX10	Zornitza Stark Phenotypes for gene: SOX10 were changed from to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
06 Apr 2022	Mendeliome v0.12658	SOX10	Zornitza Stark Publications for gene: SOX10 were set to
06 Apr 2022	Mendeliome v0.12657	SOX10	Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12656	SOX10	Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: Kallman syndrome, PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12656	SOX17	Zornitza Stark edited their review of gene: SOX17: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12656	SOX17	Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12656	SOX17	Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924
06 Apr 2022	Mendeliome v0.12655	SOX17	Zornitza Stark Publications for gene: SOX17 were set to
06 Apr 2022	Mendeliome v0.12654	SOX17	Zornitza Stark Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12653	SOX17	Zornitza Stark reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341, 20960469; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: None
06 Apr 2022	Mendeliome v0.12653	SOX18	Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12653	SOX18	Zornitza Stark Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
06 Apr 2022	Mendeliome v0.12652	SOX18	Zornitza Stark Publications for gene: SOX18 were set to
06 Apr 2022	Mendeliome v0.12651	SOX18	Zornitza Stark Mode of inheritance for gene: SOX18 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12650	SOX18	Zornitza Stark reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12740761, 24697860, 2484451, 26148450, 33851505; Phenotypes: Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12650	SOX5	Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12650	SOX5	Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM# 616803
06 Apr 2022	Mendeliome v0.12649	SOX5	Zornitza Stark Publications for gene: SOX5 were set to
06 Apr 2022	Mendeliome v0.12648	SOX5	Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12647	SOX5	Zornitza Stark Tag SV/CNV tag was added to gene: SOX5.
06 Apr 2022	Mendeliome v0.12647	SOX5	Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22290657, 23220431; Phenotypes: Lamb-Shaffer syndrome, MIM# 616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12647	SOX9	Zornitza Stark Gene: sox9 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12647	SOX9	Zornitza Stark Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251
06 Apr 2022	Mendeliome v0.12646	SOX9	Zornitza Stark Publications for gene: SOX9 were set to
06 Apr 2022	Mendeliome v0.12645	SOX9	Zornitza Stark edited their review of gene: SOX9: Changed publications: 20301724
06 Apr 2022	Mendeliome v0.12645	SOX9	Zornitza Stark Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12644	SOX9	Zornitza Stark reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12644	NKX2-1	Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12644	SP7	Zornitza Stark Gene: sp7 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12644	SP7	Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
06 Apr 2022	Mendeliome v0.12643	SP7	Zornitza Stark Publications for gene: SP7 were set to
06 Apr 2022	Mendeliome v0.12642	SP7	Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12641	SP7	Zornitza Stark reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12641	SPAG7	Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12641	SPAG7	Zornitza Stark Phenotypes for gene: SPAG7 were changed from to Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540
06 Apr 2022	Mendeliome v0.12640	SPAG7	Zornitza Stark Publications for gene: SPAG7 were set to
06 Apr 2022	Mendeliome v0.12639	SPAG7	Zornitza Stark Mode of inheritance for gene: SPAG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12638	SPAG7	Zornitza Stark Classified gene: SPAG7 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12638	SPAG7	Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12637	SPAG7	Zornitza Stark reviewed gene: SPAG7: Rating: RED; Mode of pathogenicity: None; Publications: 24452265; Phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12637	SPATA5	Zornitza Stark Marked gene: SPATA5 as ready
06 Apr 2022	Mendeliome v0.12637	SPATA5	Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12637	SPATA5	Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
06 Apr 2022	Mendeliome v0.12636	SPATA5	Zornitza Stark Publications for gene: SPATA5 were set to
06 Apr 2022	Mendeliome v0.12635	SPATA5	Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12634	SPATA5	Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12634	SPECC1L	Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12634	SPECC1L	Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Hypertelorism, Teebi type, MIM# 145420; Opitz GBBB syndrome, type II, MIM#145410
06 Apr 2022	Mendeliome v0.12633	SPECC1L	Zornitza Stark Publications for gene: SPECC1L were set to
06 Apr 2022	Mendeliome v0.12632	SPECC1L	Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12631	SPECC1L	Zornitza Stark Deleted their comment
06 Apr 2022	Mendeliome v0.12631	SPECC1L	Zornitza Stark edited their review of gene: SPECC1L: Added comment: Well established gene-disease associations with Teebi and Opitz GBBB. Single individual reported with oblique facial cleft, some supportive functional data.; Changed publications: 25412741, 26111080, 21703590; Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410
06 Apr 2022	Mendeliome v0.12631	SPECC1L	Zornitza Stark edited their review of gene: SPECC1L: Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410, Craniosynostosis
06 Apr 2022	Mendeliome v0.12631	SPECC1L	Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12631	SSR4	Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12631	SSR4	Zornitza Stark Phenotypes for gene: SSR4 were changed from to Congenital disorder of glycosylation, type Iy, MIM# 300934
06 Apr 2022	Mendeliome v0.12630	SSR4	Zornitza Stark Publications for gene: SSR4 were set to
06 Apr 2022	Mendeliome v0.12629	SSR4	Zornitza Stark Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Apr 2022	Mendeliome v0.12628	SSR4	Zornitza Stark reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24218363, 26264460, 33300232; Phenotypes: Congenital disorder of glycosylation, type Iy, MIM# 300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Apr 2022	Mendeliome v0.12628	SRY	Zornitza Stark Gene: sry has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12628	SRY	Zornitza Stark Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044
06 Apr 2022	Mendeliome v0.12627	SRY	Zornitza Stark Publications for gene: SRY were set to
06 Apr 2022	Mendeliome v0.12626	SRY	Zornitza Stark Mode of inheritance for gene: SRY 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)
06 Apr 2022	Mendeliome v0.12625	SRY	Zornitza Stark reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: 9143916, 15863672; Phenotypes: 46XX sex reversal 1, MIM# 400045, 46XY sex reversal 1 , MIM#400044; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
06 Apr 2022	Mendeliome v0.12625	SRP54	Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12625	SRP54	Zornitza Stark Phenotypes for gene: SRP54 were changed from to Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752
06 Apr 2022	Mendeliome v0.12624	SRP54	Zornitza Stark Publications for gene: SRP54 were set to
06 Apr 2022	Mendeliome v0.12623	SRP54	Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12622	SRP54	Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12622	SRD5A2	Zornitza Stark Gene: srd5a2 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12622	SRD5A2	Zornitza Stark Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600
06 Apr 2022	Mendeliome v0.12621	SRD5A2	Zornitza Stark Publications for gene: SRD5A2 were set to
06 Apr 2022	Mendeliome v0.12620	SRD5A2	Zornitza Stark Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12619	SRD5A2	Zornitza Stark reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12619	SPRY1	Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12619	SPRY1	Zornitza Stark Classified gene: SPRY1 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12619	SPRY1	Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12618	SPRY1	Zornitza Stark reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Apr 2022	Mendeliome v0.12618	SPINK5	Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12618	SPINK5	Zornitza Stark Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500
06 Apr 2022	Mendeliome v0.12617	SPINK5	Zornitza Stark Publications for gene: SPINK5 were set to
06 Apr 2022	Mendeliome v0.12616	SPINK5	Zornitza Stark Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12615	SPINK5	Zornitza Stark reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12615	SPINK1	Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12615	SPINK1	Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800
06 Apr 2022	Mendeliome v0.12614	SPINK1	Zornitza Stark Publications for gene: SPINK1 were set to
06 Apr 2022	Mendeliome v0.12613	SPINK1	Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12612	SPINK1	Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12612	SPG7	Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250
06 Apr 2022	Mendeliome v0.12611	SPG7	Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12610	SPG7	Zornitza Stark changed review comment from: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. Well established for bi-allelic variants. Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.; to: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. Well established for bi-allelic variants. Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance. Association with OA: 7 families reported for AD OA, including 5 missense and 2 frameshift variants, PMID 32548275
06 Apr 2022	Mendeliome v0.12610	SPG7	Zornitza Stark edited their review of gene: SPG7: Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant optic atrophy, MONDO:0020250; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12610	SPG7	Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12610	SPG7	Zornitza Stark Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259
06 Apr 2022	Mendeliome v0.12609	SPG7	Zornitza Stark Publications for gene: SPG7 were set to
06 Apr 2022	Mendeliome v0.12608	SPG7	Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12607	SPG7	Zornitza Stark reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12607	RSPO4	Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12607	RSPO4	Zornitza Stark Phenotypes for gene: RSPO4 were changed from to Anonychia congenita MIM# 206800
06 Apr 2022	Mendeliome v0.12606	RSPO4	Zornitza Stark Publications for gene: RSPO4 were set to
06 Apr 2022	Mendeliome v0.12605	RSPO4	Zornitza Stark Mode of inheritance for gene: RSPO4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12604	RTN4IP1	Zornitza Stark Marked gene: RTN4IP1 as ready
06 Apr 2022	Mendeliome v0.12604	RTN4IP1	Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12604	RTN4IP1	Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
06 Apr 2022	Mendeliome v0.12603	RTN4IP1	Zornitza Stark Publications for gene: RTN4IP1 were set to
06 Apr 2022	Mendeliome v0.12602	RTN4IP1	Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12601	RUNX1	Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12601	RUNX1	Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Leukemia, acute myeloid, MIM# 601626
06 Apr 2022	Mendeliome v0.12600	RUNX1	Zornitza Stark Publications for gene: RUNX1 were set to
06 Apr 2022	Mendeliome v0.12599	RUNX1	Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12598	PAX6	Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12598	PAX6	Zornitza Stark Phenotypes for gene: PAX6 were changed from to Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550
06 Apr 2022	Mendeliome v0.12597	PAX6	Zornitza Stark Publications for gene: PAX6 were set to
06 Apr 2022	Mendeliome v0.12596	PAX6	Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12595	PAX2	Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12595	PAX2	Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352; Glomerulosclerosis, focal segmental, 7 - MIM#616002
06 Apr 2022	Mendeliome v0.12594	PAX2	Zornitza Stark Publications for gene: PAX2 were set to
06 Apr 2022	Mendeliome v0.12593	PAX2	Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12592	TSEN15	Zornitza Stark Marked gene: TSEN15 as ready
06 Apr 2022	Mendeliome v0.12592	TSEN15	Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12592	TSEN15	Zornitza Stark Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874
06 Apr 2022	Mendeliome v0.12591	TSEN15	Zornitza Stark Publications for gene: TSEN15 were set to
06 Apr 2022	Mendeliome v0.12590	TSEN15	Zornitza Stark Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12589	TSEN15	Zornitza Stark reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12589	RAB33B	Zornitza Stark Gene: rab33b has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12589	RAB33B	Zornitza Stark Phenotypes for gene: RAB33B were changed from to Smith-McCort dysplasia 2 (MIM#615222)
06 Apr 2022	Mendeliome v0.12588	RAB33B	Zornitza Stark Publications for gene: RAB33B were set to
06 Apr 2022	Mendeliome v0.12587	RAB33B	Zornitza Stark Mode of inheritance for gene: RAB33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12586	RAB28	Zornitza Stark Gene: rab28 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12586	RAB28	Zornitza Stark Phenotypes for gene: RAB28 were changed from to Cone-rod dystrophy 18 (MIM#615374)
06 Apr 2022	Mendeliome v0.12585	RAB28	Zornitza Stark Publications for gene: RAB28 were set to
06 Apr 2022	Mendeliome v0.12584	RAB28	Zornitza Stark Mode of inheritance for gene: RAB28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12583	PAM16	Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
06 Apr 2022	Mendeliome v0.12583	PAM16	Zornitza Stark Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
06 Apr 2022	Mendeliome v0.12582	PAM16	Zornitza Stark Publications for gene: PAM16 were set to
06 Apr 2022	Mendeliome v0.12581	PAM16	Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12580	PALLD	Zornitza Stark Gene: palld has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12580	PALLD	Zornitza Stark Classified gene: PALLD as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12580	PALLD	Zornitza Stark Gene: palld has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12579	ANKH	Zornitza Stark Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Apr 2022	Mendeliome v0.12578	AMPD3	Zornitza Stark Gene: ampd3 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12578	AMPD3	Zornitza Stark Phenotypes for gene: AMPD3 were changed from to [AMP deaminase deficiency, erythrocytic] MIM#612874
06 Apr 2022	Mendeliome v0.12577	AMPD3	Zornitza Stark Publications for gene: AMPD3 were set to
06 Apr 2022	Mendeliome v0.12576	AMPD3	Zornitza Stark Mode of inheritance for gene: AMPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12575	AMPD3	Zornitza Stark Classified gene: AMPD3 as Red List (low evidence)
06 Apr 2022	Mendeliome v0.12575	AMPD3	Zornitza Stark Gene: ampd3 has been classified as Red List (Low Evidence).
06 Apr 2022	Mendeliome v0.12574	AMPD3	Zornitza Stark reviewed gene: AMPD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: None
06 Apr 2022	Mendeliome v0.12574	PIK3CG	Zornitza Stark Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
06 Apr 2022	Mendeliome v0.12573	PIK3CG	Zornitza Stark edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis
06 Apr 2022	Mendeliome v0.12573	RSPO4	Belinda Chong reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041604, 17914448, 18070203; Phenotypes: Anonychia congenita MIM# 206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Apr 2022	Mendeliome v0.12573	RTN4IP1	Belinda Chong reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267, 31077085; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
06 Apr 2022	Mendeliome v0.12573	RUNX1	Belinda Chong reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399, Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
05 Apr 2022	Mendeliome v0.12573	PAX6	Krithika Murali reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: ?Coloboma of optic nerve - MIM# 120430, ?Coloboma, ocular - MIM#120200, ?Morning glory disc anomaly - MIM#120430, Aniridia - MIM#106210, Anterior segment dysgenesis 5, multiple subtypes - MIM#604229, Cataract with late-onset corneal dystrophy - MIM#106210, Foveal hypoplasia 1- MIM#136520, Keratitis - MIM#148190, Optic nerve hypoplasia - MIM#165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Apr 2022	Mendeliome v0.12573	PAX2	Krithika Murali reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352, Glomerulosclerosis, focal segmental, 7 - MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Apr 2022	Mendeliome v0.12573	TSEN15	Manny Jacobs reviewed gene: TSEN15: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: None
04 Apr 2022	Mendeliome v0.12573	RAB33B	Crystle Lee reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2 (MIM#615222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12573	ALMS1	Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome MIM#203800
04 Apr 2022	Mendeliome v0.12572	ALMS1	Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12571	SERPINC1	Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12571	SERPINC1	Zornitza Stark Phenotypes for gene: SERPINC1 were changed from to hereditary antithrombin deficiency MONDO:0013144; Thrombophilia 7 due to antithrombin III deficiency, MIM#613118
04 Apr 2022	Mendeliome v0.12570	SERPINC1	Zornitza Stark Publications for gene: SERPINC1 were set to
04 Apr 2022	Mendeliome v0.12569	SERPINC1	Zornitza Stark Mode of inheritance for gene: SERPINC1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12568	RAB28	Crystle Lee reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12568	SERPINB8	Zornitza Stark Gene: serpinb8 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12568	SERPINB8	Zornitza Stark Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5, MIM#617115
04 Apr 2022	Mendeliome v0.12567	SERPINB8	Zornitza Stark Publications for gene: SERPINB8 were set to
04 Apr 2022	Mendeliome v0.12566	SERPINB8	Zornitza Stark Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12565	SERPINB6	Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12565	SERPINB6	Zornitza Stark Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453
04 Apr 2022	Mendeliome v0.12564	SERPINB6	Zornitza Stark Publications for gene: SERPINB6 were set to
04 Apr 2022	Mendeliome v0.12563	SERPINB6	Zornitza Stark Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12562	PNPT1	Zornitza Stark Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153
04 Apr 2022	Mendeliome v0.12561	PAM16	Krithika Murali reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12561	PALLD	Krithika Murali reviewed gene: PALLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
04 Apr 2022	Mendeliome v0.12561	CCM2	Ain Roesley Gene: ccm2 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12561	CCM2	Ain Roesley Phenotypes for gene: CCM2 were changed from to Cerebral cavernous malformations-2 MIM#603284
04 Apr 2022	Mendeliome v0.12560	CCM2	Ain Roesley Publications for gene: CCM2 were set to
04 Apr 2022	Mendeliome v0.12560	CCM2	Ain Roesley Mode of inheritance for gene: CCM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2022	Mendeliome v0.12559	CCM2	Ain Roesley reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14624391, 18779516, 30356112, 21543988; Phenotypes: Cerebral cavernous malformations-2 MIM#603284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12559	CCL2	Ain Roesley Gene: ccl2 has been classified as Red List (Low Evidence).
04 Apr 2022	Mendeliome v0.12559	CCL2	Ain Roesley Phenotypes for gene: CCL2 were changed from to {HIV-1, resistance to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948; {Spina bifida, susceptibility to} MIM#182940
04 Apr 2022	Mendeliome v0.12559	CCL2	Ain Roesley Classified gene: CCL2 as Red List (low evidence)
04 Apr 2022	Mendeliome v0.12559	CCL2	Ain Roesley Gene: ccl2 has been classified as Red List (Low Evidence).
04 Apr 2022	Mendeliome v0.12558	CCL2	Ain Roesley reviewed gene: CCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {HIV-1, resistance to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948, {Spina bifida, susceptibility to} MIM#182940; Mode of inheritance: None; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12558	ANK1	Elena Savva Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1 MIM#182900 to Spherocytosis, type 1 MIM#182900
04 Apr 2022	Mendeliome v0.12557	CCDC88A	Ain Roesley Gene: ccdc88a has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12557	CCDC88A	Ain Roesley Publications for gene: CCDC88A were set to
04 Apr 2022	Mendeliome v0.12557	CCDC88A	Ain Roesley Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
04 Apr 2022	Mendeliome v0.12557	CCDC88A	Ain Roesley Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12556	ANK1	Elena Savva Phenotypes for gene: ANK1 were changed from to Spherocytosis, type 1 MIM#182900
04 Apr 2022	Mendeliome v0.12555	CCDC88A	Ain Roesley reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12555	ANK1	Elena Savva Gene: ank1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12555	ANK1	Elena Savva Publications for gene: ANK1 were set to
04 Apr 2022	Mendeliome v0.12555	ANK1	Elena Savva Mode of inheritance for gene: ANK1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12554	ANK1	Elena Savva reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640229; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12554	ANKH	Elena Savva Gene: ankh has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12554	CCDC50	Ain Roesley Gene: ccdc50 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12554	CCDC50	Ain Roesley Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44 MIM#607453
04 Apr 2022	Mendeliome v0.12554	CCDC50	Ain Roesley Publications for gene: CCDC50 were set to
04 Apr 2022	Mendeliome v0.12554	CCDC50	Ain Roesley Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2022	Mendeliome v0.12553	ANKLE2	Elena Savva Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681
04 Apr 2022	Mendeliome v0.12552	CCDC50	Ain Roesley reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12552	ANKLE2	Elena Savva Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681
04 Apr 2022	Mendeliome v0.12551	ANKLE2	Elena Savva Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12550	ANKH	Elena Savva Phenotypes for gene: ANKH were changed from to Chondrocalcinosis 2 MIM#118600; Craniometaphyseal dysplasia MIM#123000
04 Apr 2022	Mendeliome v0.12550	ANKH	Elena Savva Publications for gene: ANKH were set to
04 Apr 2022	Mendeliome v0.12549	ANKH	Elena Savva Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
04 Apr 2022	Mendeliome v0.12548	ANKLE2	Elena Savva Phenotypes for gene: ANKLE2 were changed from to Microcephaly 16, primary, autosomal recessive, MIM# 616681
04 Apr 2022	Mendeliome v0.12547	ANKLE2	Elena Savva Gene: ankle2 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12547	ANKLE2	Elena Savva Publications for gene: ANKLE2 were set to
04 Apr 2022	Mendeliome v0.12546	ANKH	Elena Savva reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32366894; Phenotypes: Chondrocalcinosis 2 MIM#118600, Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
04 Apr 2022	Mendeliome v0.12546	CAV3	Ain Roesley Gene: cav3 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12546	CAV3	Ain Roesley Phenotypes for gene: CAV3 were changed from to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
04 Apr 2022	Mendeliome v0.12545	CAV3	Ain Roesley Publications for gene: CAV3 were set to
04 Apr 2022	Mendeliome v0.12545	CAV3	Ain Roesley Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2022	Mendeliome v0.12544	CAV3	Ain Roesley reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32004987, 28807458, 27312022, 10746614; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12544	ETFDH	Bryony Thompson Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12543	ETFB	Bryony Thompson Publications for gene: ETFB were set to
04 Apr 2022	Mendeliome v0.12542	ETFDH	Bryony Thompson reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17412732, 27038534, 19249206, 15710863, 32804429; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12542	CATSPER2	Ain Roesley Marked gene: CATSPER2 as ready
04 Apr 2022	Mendeliome v0.12542	CATSPER2	Ain Roesley Gene: catsper2 has been classified as Amber List (Moderate Evidence).
04 Apr 2022	Mendeliome v0.12542	CATSPER2	Ain Roesley Classified gene: CATSPER2 as Amber List (moderate evidence)
04 Apr 2022	Mendeliome v0.12542	CATSPER2	Ain Roesley Gene: catsper2 has been classified as Amber List (Moderate Evidence).
04 Apr 2022	Mendeliome v0.12541	CATSPER2	Ain Roesley Phenotypes for gene: CATSPER2 were changed from to spermatogenic failure; non-syndromic hearing loss
04 Apr 2022	Mendeliome v0.12540	CATSPER2	Ain Roesley Publications for gene: CATSPER2 were set to
04 Apr 2022	Mendeliome v0.12540	CATSPER2	Ain Roesley Mode of inheritance for gene: CATSPER2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12539	CATSPER2	Ain Roesley Tag SV/CNV tag was added to gene: CATSPER2.
04 Apr 2022	Mendeliome v0.12539	CATSPER2	Ain Roesley reviewed gene: CATSPER2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17098888, 30629171, 12825070; Phenotypes: spermatogenic failure, non-syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12539	ANGPTL3	Elena Savva Marked gene: ANGPTL3 as ready
04 Apr 2022	Mendeliome v0.12539	ANGPTL3	Elena Savva Gene: angptl3 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12539	ETFB	Bryony Thompson Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12538	ANGPTL3	Elena Savva Phenotypes for gene: ANGPTL3 were changed from to Hypobetalipoproteinemia, familial, 2 MIM#605019
04 Apr 2022	Mendeliome v0.12537	ANGPTL3	Elena Savva Publications for gene: ANGPTL3 were set to
04 Apr 2022	Mendeliome v0.12537	ANGPTL3	Elena Savva Mode of inheritance for gene: ANGPTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12536	ANGPTL3	Elena Savva reviewed gene: ANGPTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23150577, 20942659, 22155345, 22062970; Phenotypes: Hypobetalipoproteinemia, familial, 2 MIM#605019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12536	ETFB	Bryony Thompson reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12536	CATSPER1	Ain Roesley Marked gene: CATSPER1 as ready
04 Apr 2022	Mendeliome v0.12536	CATSPER1	Ain Roesley Gene: catsper1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12536	CATSPER1	Ain Roesley Phenotypes for gene: CATSPER1 were changed from to Spermatogenic failure 7 MIM#612997
04 Apr 2022	Mendeliome v0.12535	CATSPER1	Ain Roesley Publications for gene: CATSPER1 were set to
04 Apr 2022	Mendeliome v0.12535	CATSPER1	Ain Roesley Mode of inheritance for gene: CATSPER1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12534	CATSPER1	Ain Roesley changed review comment from: 2 consanguineous families; to: 2 consanguineous families KO mice models had reduced sperm motility and fertilisation rates
04 Apr 2022	Mendeliome v0.12534	ETFA	Bryony Thompson Marked gene: ETFA as ready
04 Apr 2022	Mendeliome v0.12534	ETFA	Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12534	CATSPER1	Ain Roesley edited their review of gene: CATSPER1: Changed rating: GREEN; Set current diagnostic: yes
04 Apr 2022	Mendeliome v0.12534	ETFA	Bryony Thompson Phenotypes for gene: ETFA were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
04 Apr 2022	Mendeliome v0.12533	AMPD3	Elena Savva reviewed gene: AMPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8004104, 11139257, 24940686; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12533	ERLIN2	Bryony Thompson Gene: erlin2 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12533	ETFA	Bryony Thompson Publications for gene: ETFA were set to
04 Apr 2022	Mendeliome v0.12532	CATSPER1	Ain Roesley reviewed gene: CATSPER1: Rating: ; Mode of pathogenicity: None; Publications: 19344877, 25457194, 19210926; Phenotypes: Spermatogenic failure 7 MIM#612997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12532	TSHB	Zornitza Stark Marked gene: TSHB as ready
04 Apr 2022	Mendeliome v0.12532	TSHB	Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12532	ETFA	Bryony Thompson Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12532	TSHB	Zornitza Stark Phenotypes for gene: TSHB were changed from to Hypothyroidism, congenital, nongoitrous 4, MIM# 275100
04 Apr 2022	Mendeliome v0.12531	ERLIN2	Bryony Thompson Phenotypes for gene: ERLIN2 were changed from to hereditary spastic paraplegia 18 MONDO:0012639
04 Apr 2022	Mendeliome v0.12530	TSHB	Zornitza Stark Publications for gene: TSHB were set to
04 Apr 2022	Mendeliome v0.12529	TSHB	Zornitza Stark Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12528	TSHB	Zornitza Stark reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12528	TSHR	Zornitza Stark Marked gene: TSHR as ready
04 Apr 2022	Mendeliome v0.12528	TSHR	Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12528	TSHR	Zornitza Stark Phenotypes for gene: TSHR were changed from to Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309; Hyperthyroidism, nonautoimmune, MIM# 609152; Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045
04 Apr 2022	Mendeliome v0.12527	TSHR	Zornitza Stark Publications for gene: TSHR were set to
04 Apr 2022	Mendeliome v0.12526	TSHR	Zornitza Stark Mode of inheritance for gene: TSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12525	ETFA	Bryony Thompson reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1430199, 1882842, 21347544; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12525	CAT	Ain Roesley Marked gene: CAT as ready
04 Apr 2022	Mendeliome v0.12525	CAT	Ain Roesley Gene: cat has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12525	CAT	Ain Roesley Phenotypes for gene: CAT were changed from to Acatalasemia MIM#614097; hypocatalasemia
04 Apr 2022	Mendeliome v0.12525	CAT	Ain Roesley Publications for gene: CAT were set to
04 Apr 2022	Mendeliome v0.12525	CAT	Ain Roesley Mode of inheritance for gene: CAT was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12524	CAT	Ain Roesley reviewed gene: CAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 24025477; Phenotypes: Acatalasemia MIM#614097, hypocatalasemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12524	ERLIN2	Bryony Thompson Publications for gene: ERLIN2 were set to
04 Apr 2022	Mendeliome v0.12523	TSPAN7	Zornitza Stark Marked gene: TSPAN7 as ready
04 Apr 2022	Mendeliome v0.12523	TSPAN7	Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
04 Apr 2022	Mendeliome v0.12523	TSPAN7	Zornitza Stark Phenotypes for gene: TSPAN7 were changed from to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
04 Apr 2022	Mendeliome v0.12522	TSPAN7	Zornitza Stark Publications for gene: TSPAN7 were set to
04 Apr 2022	Mendeliome v0.12521	TSPAN7	Zornitza Stark Mode of inheritance for gene: TSPAN7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 Apr 2022	Mendeliome v0.12520	TSPAN7	Zornitza Stark Classified gene: TSPAN7 as Amber List (moderate evidence)
04 Apr 2022	Mendeliome v0.12520	TSPAN7	Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
04 Apr 2022	Mendeliome v0.12519	TSPAN7	Zornitza Stark changed review comment from: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes.; to: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes. Most variants in ClinVar are either VOUS or LB.
04 Apr 2022	Mendeliome v0.12519	TSPAN7	Zornitza Stark reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 Apr 2022	Mendeliome v0.12519	ERLIN2	Bryony Thompson Mode of inheritance for gene: ERLIN2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12518	ERLIN2	Bryony Thompson reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23109145, 21330303, 21796390, 29528531, 32094424, 34734492; Phenotypes: hereditary spastic paraplegia 18 MONDO:0012639; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12518	AMT	Elena Savva Marked gene: AMT as ready
04 Apr 2022	Mendeliome v0.12518	AMT	Elena Savva Gene: amt has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12518	EPX	Bryony Thompson Gene: epx has been classified as Red List (Low Evidence).
04 Apr 2022	Mendeliome v0.12518	EPX	Bryony Thompson Phenotypes for gene: EPX were changed from to [Eosinophil peroxidase deficiency] MIM#261500
04 Apr 2022	Mendeliome v0.12517	AMT	Elena Savva Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12517	AMT	Elena Savva Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
04 Apr 2022	Mendeliome v0.12517	AMT	Elena Savva Publications for gene: AMT were set to
04 Apr 2022	Mendeliome v0.12516	AMHR2	Elena Savva Gene: amhr2 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12516	AMHR2	Elena Savva Phenotypes for gene: AMHR2 were changed from to Persistent Mullerian duct syndrome, type II MIM#261550
04 Apr 2022	Mendeliome v0.12515	AMHR2	Elena Savva Publications for gene: AMHR2 were set to
04 Apr 2022	Mendeliome v0.12515	AMHR2	Elena Savva Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12514	ALX4	Elena Savva Gene: alx4 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12514	AMHR2	Elena Savva reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34810374; Phenotypes: Persistent Mullerian duct syndrome, type II MIM#261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12514	EPX	Bryony Thompson Publications for gene: EPX were set to
04 Apr 2022	Mendeliome v0.12513	EPX	Bryony Thompson Mode of inheritance for gene: EPX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12512	ALX4	Elena Savva Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529
04 Apr 2022	Mendeliome v0.12512	ALX4	Elena Savva Publications for gene: ALX4 were set to
04 Apr 2022	Mendeliome v0.12512	ALX4	Elena Savva Mode of inheritance for gene: ALX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12511	EPX	Bryony Thompson Classified gene: EPX as Red List (low evidence)
04 Apr 2022	Mendeliome v0.12511	EPX	Bryony Thompson Gene: epx has been classified as Red List (Low Evidence).
04 Apr 2022	Mendeliome v0.12510	EPX	Bryony Thompson reviewed gene: EPX: Rating: RED; Mode of pathogenicity: None; Publications: 7809065, 11241847; Phenotypes: [Eosinophil peroxidase deficiency] MIM#261500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12510	ALX4	Elena Savva reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829454, 34586326; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12510	ALMS1	Elena Savva Publications for gene: ALMS1 were set to PMID: 17594715
04 Apr 2022	Mendeliome v0.12509	ALMS1	Elena Savva Publications for gene: ALMS1 were set to
04 Apr 2022	Mendeliome v0.12508	ALMS1	Elena Savva Gene: alms1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12508	ALDH6A1	Elena Savva Gene: aldh6a1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12508	ALDH18A1	Elena Savva Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
04 Apr 2022	Mendeliome v0.12507	ALDH6A1	Elena Savva Phenotypes for gene: ALDH6A1 were changed from to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism
04 Apr 2022	Mendeliome v0.12506	ALDH6A1	Elena Savva Publications for gene: ALDH6A1 were set to
04 Apr 2022	Mendeliome v0.12506	ALDH6A1	Elena Savva Mode of inheritance for gene: ALDH6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12505	ALDH18A1	Elena Savva Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
04 Apr 2022	Mendeliome v0.12504	ALDH18A1	Elena Savva Gene: aldh18a1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12504	ALDH18A1	Elena Savva Publications for gene: ALDH18A1 were set to
04 Apr 2022	Mendeliome v0.12504	ALDH18A1	Elena Savva Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12503	SERPINC1	Samantha Ayres reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31359133, 30356112, 23910795, 28317092, 29747524, 11018075, 14590998; Phenotypes: hereditary antithrombin deficiency MONDO:0013144, Thrombophilia 7 due to antithrombin III deficiency, MIM#613118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12503	CASR	Ain Roesley Gene: casr has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12503	CASR	Ain Roesley Phenotypes for gene: CASR were changed from to Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980
04 Apr 2022	Mendeliome v0.12502	CASR	Ain Roesley Publications for gene: CASR were set to
04 Apr 2022	Mendeliome v0.12502	CASR	Ain Roesley Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12501	CASR	Ain Roesley reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911, 22620673, 26646938, 22422767; Phenotypes: Hyperparathyroidism, neonatal MIM#239200, Hypocalcemia, autosomal dominant MIM#601198, Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198, hypercalcemia, type I MIM#145980; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12501	CASQ1	Ain Roesley Publications for gene: CASQ1 were set to
04 Apr 2022	Mendeliome v0.12500	CASQ1	Ain Roesley Gene: casq1 has been classified as Green List (High Evidence).
04 Apr 2022	Mendeliome v0.12500	CASQ1	Ain Roesley Phenotypes for gene: CASQ1 were changed from to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
04 Apr 2022	Mendeliome v0.12499	CASQ1	Ain Roesley Mode of inheritance for gene: CASQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2022	Mendeliome v0.12498	CASQ1	Ain Roesley Tag founder tag was added to gene: CASQ1.
04 Apr 2022	Mendeliome v0.12498	CASQ1	Ain Roesley reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26136523, 30258016; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates MIM#616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
04 Apr 2022	Mendeliome v0.12498	SERPINB8	Samantha Ayres reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2022	Mendeliome v0.12498	SERPINB6	Samantha Ayres changed review comment from: Multiple affected families and animal model.; to: Multiple affected families and animal model. Note: listed as a red gene on paed additional findings gene list. No review provided however.
04 Apr 2022	Mendeliome v0.12498	SERPINB6	Samantha Ayres reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12498	TMEM98	Zornitza Stark Marked gene: TMEM98 as ready
03 Apr 2022	Mendeliome v0.12498	TMEM98	Zornitza Stark Gene: tmem98 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12498	TMEM98	Zornitza Stark Phenotypes for gene: TMEM98 were changed from to Nanophthalmos 4 MIM#615972
03 Apr 2022	Mendeliome v0.12497	TMEM98	Zornitza Stark Publications for gene: TMEM98 were set to
03 Apr 2022	Mendeliome v0.12496	TMEM98	Zornitza Stark Mode of inheritance for gene: TMEM98 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Apr 2022	Mendeliome v0.12495	TMEM98	Zornitza Stark reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: None; Publications: 24852644, 26392740; Phenotypes: Nanophthalmos 4 MIM#615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Apr 2022	Mendeliome v0.12495	TMEM70	Zornitza Stark Marked gene: TMEM70 as ready
03 Apr 2022	Mendeliome v0.12495	TMEM70	Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12495	TMEM70	Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
03 Apr 2022	Mendeliome v0.12494	TMEM70	Zornitza Stark Publications for gene: TMEM70 were set to
03 Apr 2022	Mendeliome v0.12493	TMEM70	Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12492	TMEM70	Zornitza Stark reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12492	TMEM38B	Zornitza Stark Marked gene: TMEM38B as ready
03 Apr 2022	Mendeliome v0.12492	TMEM38B	Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12492	TMEM38B	Zornitza Stark Phenotypes for gene: TMEM38B were changed from to Osteogenesis imperfecta, type XIV, MIM# 615066
03 Apr 2022	Mendeliome v0.12491	TMEM38B	Zornitza Stark Publications for gene: TMEM38B were set to
03 Apr 2022	Mendeliome v0.12490	TMEM38B	Zornitza Stark Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12489	TMEM38B	Zornitza Stark reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23054245; Phenotypes: Osteogenesis imperfecta, type XIV, MIM# 615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12489	TMEM199	Zornitza Stark Marked gene: TMEM199 as ready
03 Apr 2022	Mendeliome v0.12489	TMEM199	Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12489	TMEM199	Zornitza Stark Phenotypes for gene: TMEM199 were changed from to Congenital disorder of glycosylation, type IIp MIM# 616829
03 Apr 2022	Mendeliome v0.12488	TMEM199	Zornitza Stark Publications for gene: TMEM199 were set to
03 Apr 2022	Mendeliome v0.12487	TMEM199	Zornitza Stark Mode of inheritance for gene: TMEM199 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12486	TMEM199	Zornitza Stark reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833330, 29321044; Phenotypes: Congenital disorder of glycosylation, type IIp MIM# 616829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12486	TMEM173	Zornitza Stark Marked gene: TMEM173 as ready
03 Apr 2022	Mendeliome v0.12486	TMEM173	Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12486	TMEM173	Zornitza Stark Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934
03 Apr 2022	Mendeliome v0.12485	TMEM173	Zornitza Stark Publications for gene: TMEM173 were set to
03 Apr 2022	Mendeliome v0.12484	TMEM173	Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Apr 2022	Mendeliome v0.12483	TMEM173	Zornitza Stark reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401470, 25029335; Phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Apr 2022	Mendeliome v0.12483	TMC6	Zornitza Stark Marked gene: TMC6 as ready
03 Apr 2022	Mendeliome v0.12483	TMC6	Zornitza Stark Gene: tmc6 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12483	TMC6	Zornitza Stark Phenotypes for gene: TMC6 were changed from to Epidermodysplasia verruciformis, MIM# 226400
03 Apr 2022	Mendeliome v0.12482	TMC6	Zornitza Stark Publications for gene: TMC6 were set to
03 Apr 2022	Mendeliome v0.12481	TMC6	Zornitza Stark Mode of inheritance for gene: TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12480	TMC6	Zornitza Stark reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 15042430]; Phenotypes: Epidermodysplasia verruciformis, MIM# 226400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12480	TLR5	Zornitza Stark Marked gene: TLR5 as ready
03 Apr 2022	Mendeliome v0.12480	TLR5	Zornitza Stark Gene: tlr5 has been classified as Red List (Low Evidence).
03 Apr 2022	Mendeliome v0.12480	TLR5	Zornitza Stark Classified gene: TLR5 as Red List (low evidence)
03 Apr 2022	Mendeliome v0.12480	TLR5	Zornitza Stark Gene: tlr5 has been classified as Red List (Low Evidence).
03 Apr 2022	Mendeliome v0.12479	TLR5	Zornitza Stark reviewed gene: TLR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
03 Apr 2022	Mendeliome v0.12479	TLR3	Zornitza Stark Marked gene: TLR3 as ready
03 Apr 2022	Mendeliome v0.12479	TLR3	Zornitza Stark Gene: tlr3 has been classified as Green List (High Evidence).
03 Apr 2022	Mendeliome v0.12479	TLR3	Zornitza Stark Phenotypes for gene: TLR3 were changed from to Immunodeficiency 83, susceptibility to viral infections, MIM# 613002
03 Apr 2022	Mendeliome v0.12478	TLR3	Zornitza Stark Publications for gene: TLR3 were set to
03 Apr 2022	Mendeliome v0.12477	TLR3	Zornitza Stark Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12476	TLR3	Zornitza Stark reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17872438, 21911422, 25339207, 26513235, 28368532, 31217193, 32936395; Phenotypes: Immunodeficiency 83, susceptibility to viral infections, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Apr 2022	Mendeliome v0.12476	TLR2	Zornitza Stark Marked gene: TLR2 as ready
03 Apr 2022	Mendeliome v0.12476	TLR2	Zornitza Stark Gene: tlr2 has been classified as Red List (Low Evidence).
03 Apr 2022	Mendeliome v0.12476	TLR2	Zornitza Stark Classified gene: TLR2 as Red List (low evidence)
03 Apr 2022	Mendeliome v0.12476	TLR2	Zornitza Stark Gene: tlr2 has been classified as Red List (Low Evidence).
03 Apr 2022	Mendeliome v0.12475	TLR2	Zornitza Stark reviewed gene: TLR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Apr 2022	Mendeliome v0.12475	FTCD	Zornitza Stark Marked gene: FTCD as ready
02 Apr 2022	Mendeliome v0.12475	FTCD	Zornitza Stark Gene: ftcd has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12475	FTCD	Zornitza Stark Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
02 Apr 2022	Mendeliome v0.12474	FTCD	Zornitza Stark Publications for gene: FTCD were set to 27604308; 12815595
02 Apr 2022	Mendeliome v0.12473	FTCD	Zornitza Stark Mode of inheritance for gene: FTCD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
02 Apr 2022	Mendeliome v0.12472	FTCD	Zornitza Stark Marked gene: FTCD as ready
02 Apr 2022	Mendeliome v0.12472	FTCD	Zornitza Stark Gene: ftcd has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12472	FTCD	Zornitza Stark Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
02 Apr 2022	Mendeliome v0.12471	FTCD	Zornitza Stark Publications for gene: FTCD were set to
02 Apr 2022	Mendeliome v0.12470	FTCD	Zornitza Stark Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
02 Apr 2022	Mendeliome v0.12469	FGF14	Zornitza Stark Gene: fgf14 has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12469	FGF14	Zornitza Stark Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27 MIM#609307
02 Apr 2022	Mendeliome v0.12468	FGF14	Zornitza Stark Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 Apr 2022	Mendeliome v0.12467	FAT4	Zornitza Stark Marked gene: FAT4 as ready
02 Apr 2022	Mendeliome v0.12467	FAT4	Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12467	FAT4	Zornitza Stark Phenotypes for gene: FAT4 were changed from to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
02 Apr 2022	Mendeliome v0.12466	FAT4	Zornitza Stark Publications for gene: FAT4 were set to
02 Apr 2022	Mendeliome v0.12465	FAT4	Zornitza Stark Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
02 Apr 2022	Mendeliome v0.12464	ERLIN1	Zornitza Stark Gene: erlin1 has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12464	ERCC6	Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12464	ERCC6	Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
02 Apr 2022	Mendeliome v0.12463	ERCC6	Zornitza Stark Publications for gene: ERCC6 were set to 20301516 20456449 9443879 8566949
02 Apr 2022	Mendeliome v0.12462	ERCC6	Zornitza Stark Publications for gene: ERCC6 were set to
02 Apr 2022	Mendeliome v0.12461	ERCC6	Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
02 Apr 2022	Mendeliome v0.12460	SLC30A2	Zornitza Stark Gene: slc30a2 has been classified as Green List (High Evidence).
02 Apr 2022	Mendeliome v0.12460	SLC30A2	Zornitza Stark Phenotypes for gene: SLC30A2 were changed from to Zinc deficiency, transient neonatal , MIM#608118
02 Apr 2022	Mendeliome v0.12459	SLC30A2	Zornitza Stark Publications for gene: SLC30A2 were set to
02 Apr 2022	Mendeliome v0.12458	SLC30A2	Zornitza Stark Mode of inheritance for gene: SLC30A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 Apr 2022	Mendeliome v0.12457	SLC30A2	Zornitza Stark reviewed gene: SLC30A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17065149, 22733820, 32278324, 30450693, 28665435; Phenotypes: Zinc deficiency, transient neonatal , MIM#608118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12457	SLC2A9	Zornitza Stark Gene: slc2a9 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12457	SLC2A9	Zornitza Stark Phenotypes for gene: SLC2A9 were changed from to Hypouricaemia, renal, 2, MIM# 612076
01 Apr 2022	Mendeliome v0.12456	SLC2A9	Zornitza Stark Publications for gene: SLC2A9 were set to
01 Apr 2022	Mendeliome v0.12455	SLC2A9	Zornitza Stark Mode of inheritance for gene: SLC2A9 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12454	SLC2A9	Zornitza Stark reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026395, 19926891, 21810765, 25966807, 21256783; Phenotypes: Hypouricaemia, renal, 2, MIM# 612076; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12454	RIPOR2	Zornitza Stark Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
01 Apr 2022	Mendeliome v0.12453	RIPOR2	Zornitza Stark edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017
01 Apr 2022	Mendeliome v0.12453	PNPT1	Arina Puzriakova reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12453	EPOR	Bryony Thompson Phenotypes for gene: EPOR were changed from to primary familial polycythemia due to EPO receptor mutation MONDO:0007572
01 Apr 2022	Mendeliome v0.12452	EPOR	Bryony Thompson Publications for gene: EPOR were set to
01 Apr 2022	Mendeliome v0.12451	EPS8	Bryony Thompson reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995, 27344577, 30303587, 34637946, 21526224; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12451	EPOR	Bryony Thompson Mode of pathogenicity for gene: EPOR was changed from to Other
01 Apr 2022	Mendeliome v0.12450	EPOR	Bryony Thompson Mode of inheritance for gene: EPOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12449	EPOR	Bryony Thompson reviewed gene: EPOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8506290, 11559951, 17488692, 18492694, 30507031; Phenotypes: primary familial polycythemia due to EPO receptor mutation MONDO:0007572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12449	SLC30A8	Zornitza Stark Gene: slc30a8 has been classified as Red List (Low Evidence).
01 Apr 2022	Mendeliome v0.12449	SLC30A8	Zornitza Stark Phenotypes for gene: SLC30A8 were changed from to {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853
01 Apr 2022	Mendeliome v0.12448	SLC30A8	Zornitza Stark Publications for gene: SLC30A8 were set to
01 Apr 2022	Mendeliome v0.12447	SLC30A8	Zornitza Stark Mode of inheritance for gene: SLC30A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12446	SLC30A8	Zornitza Stark Classified gene: SLC30A8 as Red List (low evidence)
01 Apr 2022	Mendeliome v0.12446	SLC30A8	Zornitza Stark Gene: slc30a8 has been classified as Red List (Low Evidence).
01 Apr 2022	Mendeliome v0.12445	SLC30A8	Zornitza Stark reviewed gene: SLC30A8: Rating: RED; Mode of pathogenicity: None; Publications: 17293876; Phenotypes: {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12445	SLC34A1	Zornitza Stark changed review comment from: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported. Nephrolithiasis and mono-allelic variants: multiple families reported.; to: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported. Nephrolithiasis and mono-allelic variants: multiple families reported. Single family reported with renal Fanconi and homozygous variant.
01 Apr 2022	Mendeliome v0.12445	SLC34A1	Zornitza Stark Gene: slc34a1 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12445	SLC34A1	Zornitza Stark Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286
01 Apr 2022	Mendeliome v0.12444	SLC34A1	Zornitza Stark Publications for gene: SLC34A1 were set to
01 Apr 2022	Mendeliome v0.12443	SLC34A1	Zornitza Stark Mode of inheritance for gene: SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12442	SLC34A1	Zornitza Stark reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683, 12324554, 32216560, 30778725; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12442	SLC34A2	Zornitza Stark Gene: slc34a2 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12442	SLC34A2	Zornitza Stark Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100
01 Apr 2022	Mendeliome v0.12441	SLC34A2	Zornitza Stark Publications for gene: SLC34A2 were set to
01 Apr 2022	Mendeliome v0.12440	SLC34A2	Zornitza Stark Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12439	SLC34A2	Zornitza Stark reviewed gene: SLC34A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960801, 34581165, 33884208, 32328294, 31941744; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12439	SLC35A1	Zornitza Stark Gene: slc35a1 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12439	EPO	Bryony Thompson Gene: epo has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12439	SLC35A1	Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
01 Apr 2022	Mendeliome v0.12438	SLC35A1	Zornitza Stark Publications for gene: SLC35A1 were set to
01 Apr 2022	Mendeliome v0.12437	SLC35A1	Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12436	SLC35A1	Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12436	EPO	Bryony Thompson Phenotypes for gene: EPO were changed from to erythrocytosis, familial, 5 MONDO:0033483
01 Apr 2022	Mendeliome v0.12435	SLC39A13	Zornitza Stark Gene: slc39a13 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12435	SLC39A13	Zornitza Stark Phenotypes for gene: SLC39A13 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350
01 Apr 2022	Mendeliome v0.12434	SLC39A13	Zornitza Stark Publications for gene: SLC39A13 were set to
01 Apr 2022	Mendeliome v0.12433	SLC39A13	Zornitza Stark Mode of inheritance for gene: SLC39A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12432	SLC39A13	Zornitza Stark reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12432	SLC39A5	Zornitza Stark Gene: slc39a5 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12432	SLC39A5	Zornitza Stark Phenotypes for gene: SLC39A5 were changed from to Myopia 24, autosomal dominant, MIM# 615946
01 Apr 2022	Mendeliome v0.12431	SLC39A5	Zornitza Stark Publications for gene: SLC39A5 were set to
01 Apr 2022	Mendeliome v0.12430	EPO	Bryony Thompson changed review comment from: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) and expected to have a similar mechanism. PMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor; to: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) expected to have a similar mechanism. PMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor
01 Apr 2022	Mendeliome v0.12430	SLC39A5	Zornitza Stark Mode of inheritance for gene: SLC39A5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12429	SLC39A5	Zornitza Stark Classified gene: SLC39A5 as Amber List (moderate evidence)
01 Apr 2022	Mendeliome v0.12429	SLC39A5	Zornitza Stark Gene: slc39a5 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12428	SLC39A5	Zornitza Stark reviewed gene: SLC39A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35002215, 34302427, 31560770, 24891338; Phenotypes: Myopia 24, autosomal dominant, MIM# 615946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12428	EPO	Bryony Thompson Publications for gene: EPO were set to
01 Apr 2022	Mendeliome v0.12427	EPO	Bryony Thompson Mode of pathogenicity for gene: EPO was changed from to Other
01 Apr 2022	Mendeliome v0.12426	EPM2A	Bryony Thompson Gene: epm2a has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12426	EPO	Bryony Thompson Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12425	EPO	Bryony Thompson reviewed gene: EPO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27651169, 29514032, 25985138, 28283061; Phenotypes: erythrocytosis, familial, 5 MONDO:0033483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12425	EPM2A	Bryony Thompson Phenotypes for gene: EPM2A were changed from to Lafora disease MONDO:0009697
01 Apr 2022	Mendeliome v0.12424	EPM2A	Bryony Thompson Publications for gene: EPM2A were set to
01 Apr 2022	Mendeliome v0.12423	EPM2A	Bryony Thompson Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12422	EPM2A	Bryony Thompson reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710, 9931343, 11175283, 12019207, 12560877, 14722920; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12422	TSHB	Manny Jacobs reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 1971148, 12364478, 2792087, 34780050, 31166470, 35102753, 29546359; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: None
01 Apr 2022	Mendeliome v0.12422	EPHA3	Bryony Thompson Gene: epha3 has been classified as Red List (Low Evidence).
01 Apr 2022	Mendeliome v0.12422	EPHA3	Bryony Thompson Classified gene: EPHA3 as Red List (low evidence)
01 Apr 2022	Mendeliome v0.12422	EPHA3	Bryony Thompson Gene: epha3 has been classified as Red List (Low Evidence).
01 Apr 2022	Mendeliome v0.12421	EPHA2	Bryony Thompson Gene: epha2 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12421	EPHA3	Bryony Thompson reviewed gene: EPHA3: Rating: RED; Mode of pathogenicity: None; Publications: 29932736, 21996756; Phenotypes: ; Mode of inheritance: Unknown
01 Apr 2022	Mendeliome v0.12421	EPHA2	Bryony Thompson Phenotypes for gene: EPHA2 were changed from to cataract 6 multiple types MONDO:0007288
01 Apr 2022	Mendeliome v0.12420	SLC39A8	Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12420	SLC40A1	Zornitza Stark Gene: slc40a1 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12420	SLC40A1	Zornitza Stark Phenotypes for gene: SLC40A1 were changed from to Haemochromatosis, type 4, MIM# 606069
01 Apr 2022	Mendeliome v0.12419	SLC40A1	Zornitza Stark Publications for gene: SLC40A1 were set to
01 Apr 2022	Mendeliome v0.12418	SLC40A1	Zornitza Stark Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12417	SLC40A1	Zornitza Stark reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431687, 11518736, 15956209, 16351644; Phenotypes: Haemochromatosis, type 4 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12417	EPHA2	Bryony Thompson Publications for gene: EPHA2 were set to
01 Apr 2022	Mendeliome v0.12416	EPHA2	Bryony Thompson Mode of inheritance for gene: EPHA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12415	EPHA2	Bryony Thompson reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840; Phenotypes: cataract 6 multiple types MONDO:0007288; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12415	SLC4A11	Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12415	SLC4A11	Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
01 Apr 2022	Mendeliome v0.12414	SLC4A11	Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12413	SLC4A11	Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268, Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12413	SLC4A4	Zornitza Stark Gene: slc4a4 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12413	SLC4A4	Zornitza Stark Phenotypes for gene: SLC4A4 were changed from to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Hemiplegic migraine
01 Apr 2022	Mendeliome v0.12412	SLC4A4	Zornitza Stark Publications for gene: SLC4A4 were set to
01 Apr 2022	Mendeliome v0.12411	SLC4A4	Zornitza Stark Mode of inheritance for gene: SLC4A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12410	SLC4A4	Zornitza Stark reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 11274232, 35260236, 33439394, 29914390; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278, Hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12410	ENO3	Bryony Thompson Gene: eno3 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12410	ENO3	Bryony Thompson Phenotypes for gene: ENO3 were changed from to glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046
01 Apr 2022	Mendeliome v0.12409	ENO3	Bryony Thompson Publications for gene: ENO3 were set to
01 Apr 2022	Mendeliome v0.12408	TSHR	Manny Jacobs reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7920658, 7800007, 8964822, 9329388, 9185526, 9100579; Phenotypes: Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309, Hyperthyroidism, nonautoimmune, MIM# 609152, Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12408	ENO3	Bryony Thompson Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12407	ENG	Bryony Thompson Gene: eng has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12407	ENO3	Bryony Thompson reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11506403, 31741825, 25267339, 18070103; Phenotypes: glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
01 Apr 2022	Mendeliome v0.12407	ENG	Bryony Thompson Phenotypes for gene: ENG were changed from to hereditary hemorrhagic telangiectasia MONDO:0019180
01 Apr 2022	Mendeliome v0.12406	ENG	Bryony Thompson Publications for gene: ENG were set to
01 Apr 2022	Mendeliome v0.12405	ENG	Bryony Thompson Mode of inheritance for gene: ENG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12404	ENG	Bryony Thompson reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 34012068, 30336550, 7894484, 10751092, 20414677, 30763665, 17384219, 20364125; Phenotypes: hereditary hemorrhagic telangiectasia MONDO:0019180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
01 Apr 2022	Mendeliome v0.12404	EMP2	Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12404	EMP2	Bryony Thompson Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373
01 Apr 2022	Mendeliome v0.12403	EMP2	Bryony Thompson Publications for gene: EMP2 were set to
01 Apr 2022	Mendeliome v0.12402	TSPAN7	Manny Jacobs reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
01 Apr 2022	Mendeliome v0.12402	EMP2	Bryony Thompson Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12401	EMP2	Bryony Thompson Classified gene: EMP2 as Amber List (moderate evidence)
01 Apr 2022	Mendeliome v0.12401	EMP2	Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12400	EMP2	Bryony Thompson reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12400	ELP2	Bryony Thompson Gene: elp2 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12400	ELP2	Bryony Thompson Phenotypes for gene: ELP2 were changed from to intellectual disability, autosomal recessive 58 MONDO:0014996
01 Apr 2022	Mendeliome v0.12399	ELP2	Bryony Thompson Publications for gene: ELP2 were set to
01 Apr 2022	Mendeliome v0.12398	ELP2	Bryony Thompson Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12397	ELP2	Bryony Thompson reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: intellectual disability, autosomal recessive 58 MONDO:0014996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12397	ELOVL4	Bryony Thompson Gene: elovl4 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12397	ELOVL5	Bryony Thompson Gene: elovl5 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12397	ELOVL5	Bryony Thompson Phenotypes for gene: ELOVL5 were changed from to spinocerebellar ataxia type 38 MONDO:0014417
01 Apr 2022	Mendeliome v0.12396	ELOVL4	Bryony Thompson Phenotypes for gene: ELOVL4 were changed from to congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760; spinocerebellar ataxia type 34 MONDO:0007574; Stargardt disease MONDO:0019353
01 Apr 2022	Mendeliome v0.12395	ELOVL5	Bryony Thompson Publications for gene: ELOVL5 were set to
01 Apr 2022	Mendeliome v0.12394	ELOVL4	Bryony Thompson Publications for gene: ELOVL4 were set to 11138005; 15028284; 11726641; 17208947; 22100072; 24566826; 34227061; 24571530; 26010696
01 Apr 2022	Mendeliome v0.12393	ELOVL4	Bryony Thompson Publications for gene: ELOVL4 were set to
01 Apr 2022	Mendeliome v0.12392	ELOVL5	Bryony Thompson Mode of inheritance for gene: ELOVL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12391	ELOVL4	Bryony Thompson Mode of inheritance for gene: ELOVL4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12390	ELOVL4	Bryony Thompson reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138005, 15028284, 11726641, 17208947, 22100072, 24566826, 34227061, 24571530, 26010696; Phenotypes: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760, spinocerebellar ataxia type 34 MONDO:0007574, Stargardt disease MONDO:0019353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
01 Apr 2022	Mendeliome v0.12390	ELN	Bryony Thompson Gene: eln has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12390	ELN	Bryony Thompson Phenotypes for gene: ELN were changed from to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
01 Apr 2022	Mendeliome v0.12389	ELN	Bryony Thompson Publications for gene: ELN were set to
01 Apr 2022	Mendeliome v0.12388	ELN	Bryony Thompson Mode of inheritance for gene: ELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2022	Mendeliome v0.12387	ELN	Bryony Thompson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 8132745, 9580666, 9873040, 10190324, 10190538, 22573328, 28383366; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
01 Apr 2022	Mendeliome v0.12387	ARPC4	Bryony Thompson Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
01 Apr 2022	Mendeliome v0.12386	ARPC4	Bryony Thompson edited their review of gene: ARPC4: Changed publications: 35047857; Set current diagnostic: yes
01 Apr 2022	Mendeliome v0.12386	SLC52A2	Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12386	SLC52A2	Zornitza Stark Phenotypes for gene: SLC52A2 were changed from to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
01 Apr 2022	Mendeliome v0.12385	SLC52A2	Zornitza Stark Mode of inheritance for gene: SLC52A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12384	SLC52A2	Zornitza Stark changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Well established gene-disease association.
01 Apr 2022	Mendeliome v0.12384	SLC52A3	Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12384	SLC52A3	Zornitza Stark Phenotypes for gene: SLC52A3 were changed from to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
01 Apr 2022	Mendeliome v0.12383	SLC52A3	Zornitza Stark Mode of inheritance for gene: SLC52A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12382	SLC52A3	Zornitza Stark reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12382	DVL2	Bryony Thompson Gene: dvl2 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12382	DVL2	Bryony Thompson Classified gene: DVL2 as Amber List (moderate evidence)
01 Apr 2022	Mendeliome v0.12382	DVL2	Bryony Thompson Gene: dvl2 has been classified as Amber List (Moderate Evidence).
01 Apr 2022	Mendeliome v0.12381	SLC5A2	Zornitza Stark Gene: slc5a2 has been classified as Green List (High Evidence).
01 Apr 2022	Mendeliome v0.12381	SLC5A2	Zornitza Stark Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria, MIM# 233100
01 Apr 2022	Mendeliome v0.12381	DVL2	Bryony Thompson gene: DVL2 was added gene: DVL2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL2 were set to 35047859; 33599851; 30521570 Phenotypes for gene: DVL2 were set to Robinow syndrome MONDO:0019978 Review for gene: DVL2 was set to AMBER Added comment: A single case with Robinow syndrome identified with a de novo frameshift variant in the last exon of the gene (c.2105dupC, p.Pro703Serfs*103). Also, a canine DVL2 frameshift variant has been associated with a Robinow-like syndrome in dogs, contributing to the brachycephalic phenotype and caudal vertebral anomalies. Sources: Literature
01 Apr 2022	Mendeliome v0.12380	SLC5A2	Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12379	SLC5A2	Zornitza Stark reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
01 Apr 2022	Mendeliome v0.12379	SLC6A17	Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
31 Mar 2022	Mendeliome v0.12379	TAMM41	Bryony Thompson Marked gene: TAMM41 as ready
31 Mar 2022	Mendeliome v0.12379	TAMM41	Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12379	TAMM41	Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
31 Mar 2022	Mendeliome v0.12379	TAMM41	Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12378	TAMM41	Bryony Thompson gene: TAMM41 was added gene: TAMM41 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494; 29253589 Phenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis Review for gene: TAMM41 was set to GREEN Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption. Sources: Literature
31 Mar 2022	Mendeliome v0.12377	SLC6A17	Zornitza Stark Phenotypes for gene: SLC6A17 were changed from to Mental retardation, autosomal recessive 48, MIM# 616269
31 Mar 2022	Mendeliome v0.12376	SLC6A17	Zornitza Stark Publications for gene: SLC6A17 were set to
31 Mar 2022	Mendeliome v0.12375	SLC6A17	Zornitza Stark Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12374	SLC6A17	Zornitza Stark Classified gene: SLC6A17 as Amber List (moderate evidence)
31 Mar 2022	Mendeliome v0.12374	SLC6A17	Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
31 Mar 2022	Mendeliome v0.12373	SLC6A17	Zornitza Stark reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12373	SLC6A19	Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12373	SLC6A19	Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
31 Mar 2022	Mendeliome v0.12372	SLC6A19	Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12371	BNIP1	Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
31 Mar 2022	Mendeliome v0.12371	BNIP1	Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence)
31 Mar 2022	Mendeliome v0.12371	BNIP1	Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
31 Mar 2022	Mendeliome v0.12370	BNIP1	Bryony Thompson gene: BNIP1 was added gene: BNIP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BNIP1 were set to 35266227; 31344970 Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761 Review for gene: BNIP1 was set to AMBER Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation. Sources: Literature
31 Mar 2022	Mendeliome v0.12369	EIF4E	Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
31 Mar 2022	Mendeliome v0.12369	EIF4E	Bryony Thompson Phenotypes for gene: EIF4E were changed from to {Autism, susceptibility to, 19} MIM#615091
31 Mar 2022	Mendeliome v0.12368	EIF4E	Bryony Thompson Publications for gene: EIF4E were set to
31 Mar 2022	Mendeliome v0.12367	EIF4E	Bryony Thompson Classified gene: EIF4E as Red List (low evidence)
31 Mar 2022	Mendeliome v0.12367	EIF4E	Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
31 Mar 2022	Mendeliome v0.12366	EIF4E	Bryony Thompson reviewed gene: EIF4E: Rating: RED; Mode of pathogenicity: None; Publications: 19556253, 23263185, 23172145; Phenotypes: {Autism, susceptibility to, 19} MIM#615091; Mode of inheritance: Unknown
31 Mar 2022	Mendeliome v0.12366	TLL1	Zornitza Stark Marked gene: TLL1 as ready
31 Mar 2022	Mendeliome v0.12366	TLL1	Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12366	TLL1	Zornitza Stark Phenotypes for gene: TLL1 were changed from Atrial septal defect to Atrial septal defect 6, MIM# 613087
31 Mar 2022	Mendeliome v0.12365	TLL1	Zornitza Stark reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 6, MIM# 613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12365	TK2	Zornitza Stark Marked gene: TK2 as ready
31 Mar 2022	Mendeliome v0.12365	TK2	Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12365	TK2	Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; MIM# 617069
31 Mar 2022	Mendeliome v0.12364	TK2	Zornitza Stark Publications for gene: TK2 were set to
31 Mar 2022	Mendeliome v0.12363	TK2	Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12362	TK2	Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12362	TJP2	Zornitza Stark Marked gene: TJP2 as ready
31 Mar 2022	Mendeliome v0.12362	TJP2	Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12362	TJP2	Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748
31 Mar 2022	Mendeliome v0.12361	TJP2	Zornitza Stark Publications for gene: TJP2 were set to
31 Mar 2022	Mendeliome v0.12360	TJP2	Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12359	TJP2	Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12359	TIMP3	Zornitza Stark Marked gene: TIMP3 as ready
31 Mar 2022	Mendeliome v0.12359	TIMP3	Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12359	TIMP3	Zornitza Stark Phenotypes for gene: TIMP3 were changed from to Sorsby fundus dystrophy, MIM# 136900
31 Mar 2022	Mendeliome v0.12358	TIMP3	Zornitza Stark Publications for gene: TIMP3 were set to
31 Mar 2022	Mendeliome v0.12357	TIMP3	Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12356	TIMP3	Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12356	TIMM50	Zornitza Stark Marked gene: TIMM50 as ready
31 Mar 2022	Mendeliome v0.12356	TIMM50	Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12356	TIMM50	Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
31 Mar 2022	Mendeliome v0.12355	TIMM50	Zornitza Stark Publications for gene: TIMM50 were set to
31 Mar 2022	Mendeliome v0.12354	TIMM50	Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12353	TIMM50	Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12353	TIMM44	Zornitza Stark Marked gene: TIMM44 as ready
31 Mar 2022	Mendeliome v0.12353	TIMM44	Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
31 Mar 2022	Mendeliome v0.12353	TIMM44	Zornitza Stark Classified gene: TIMM44 as Red List (low evidence)
31 Mar 2022	Mendeliome v0.12353	TIMM44	Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
31 Mar 2022	Mendeliome v0.12352	TIMM44	Zornitza Stark reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
31 Mar 2022	Mendeliome v0.12352	TICAM1	Zornitza Stark Marked gene: TICAM1 as ready
31 Mar 2022	Mendeliome v0.12352	TICAM1	Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12352	TICAM1	Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
31 Mar 2022	Mendeliome v0.12351	TICAM1	Zornitza Stark Publications for gene: TICAM1 were set to
31 Mar 2022	Mendeliome v0.12350	TICAM1	Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12349	TICAM1	Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22105173, 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12349	TTBK2	Zornitza Stark Marked gene: TTBK2 as ready
31 Mar 2022	Mendeliome v0.12349	TTBK2	Zornitza Stark Gene: ttbk2 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12349	TTBK2	Zornitza Stark Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464
31 Mar 2022	Mendeliome v0.12348	TTBK2	Zornitza Stark Publications for gene: TTBK2 were set to
31 Mar 2022	Mendeliome v0.12347	TTBK2	Zornitza Stark Mode of inheritance for gene: TTBK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12346	TTBK2	Zornitza Stark reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301723; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12346	TTLL5	Zornitza Stark Marked gene: TTLL5 as ready
31 Mar 2022	Mendeliome v0.12346	TTLL5	Zornitza Stark Gene: ttll5 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12346	TTLL5	Zornitza Stark Phenotypes for gene: TTLL5 were changed from to Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372
31 Mar 2022	Mendeliome v0.12345	TTLL5	Zornitza Stark Publications for gene: TTLL5 were set to
31 Mar 2022	Mendeliome v0.12344	TTLL5	Zornitza Stark Mode of inheritance for gene: TTLL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12343	TTR	Zornitza Stark Marked gene: TTR as ready
31 Mar 2022	Mendeliome v0.12343	TTR	Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12343	TTR	Zornitza Stark Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430
31 Mar 2022	Mendeliome v0.12342	TTR	Zornitza Stark Publications for gene: TTR were set to
31 Mar 2022	Mendeliome v0.12341	TTR	Zornitza Stark Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12340	AKT3	Zornitza Stark Mode of inheritance for gene: AKT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12339	EIF2B4	Zornitza Stark Phenotypes for gene: EIF2B4 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure to Leukoencephalopathy with vanishing white matter, MIM# 603896; leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
31 Mar 2022	Mendeliome v0.12338	PADI6	Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12338	PADI6	Zornitza Stark Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole
31 Mar 2022	Mendeliome v0.12337	PADI6	Zornitza Stark Publications for gene: PADI6 were set to
31 Mar 2022	Mendeliome v0.12336	PADI6	Zornitza Stark Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12335	PADI3	Zornitza Stark Gene: padi3 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12335	PADI3	Zornitza Stark Phenotypes for gene: PADI3 were changed from to Uncombable hair syndrome - MIM#191480
31 Mar 2022	Mendeliome v0.12334	PADI3	Zornitza Stark Publications for gene: PADI3 were set to
31 Mar 2022	Mendeliome v0.12333	PADI3	Zornitza Stark Mode of inheritance for gene: PADI3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12332	PACS2	Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12332	PACS2	Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
31 Mar 2022	Mendeliome v0.12331	PACS2	Zornitza Stark Publications for gene: PACS2 were set to
31 Mar 2022	Mendeliome v0.12330	PACS2	Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12329	PABPN1	Zornitza Stark Gene: pabpn1 has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12329	PABPN1	Zornitza Stark Phenotypes for gene: PABPN1 were changed from to Oculopharyngeal muscular dystrophy - MIM#164300
31 Mar 2022	Mendeliome v0.12328	PABPN1	Zornitza Stark Publications for gene: PABPN1 were set to
31 Mar 2022	Mendeliome v0.12327	PABPN1	Zornitza Stark Tag STR tag was added to gene: PABPN1.
31 Mar 2022	Mendeliome v0.12327	PABPN1	Zornitza Stark Mode of inheritance for gene: PABPN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12326	AGK	Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
31 Mar 2022	Mendeliome v0.12326	AGK	Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
31 Mar 2022	Mendeliome v0.12325	AGK	Zornitza Stark Publications for gene: AGK were set to
31 Mar 2022	Mendeliome v0.12324	AGK	Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Mar 2022	Mendeliome v0.12323	TTBK2	Manny Jacobs reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18037885, 31485862, 20667868, 27165044; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2022	Mendeliome v0.12323	EIF2B5	Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12323	TTLL5	Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12323	TTR	Manny Jacobs reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:1570831, 1626570, 16115295, 16194874, 26537620; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM #105210, Carpal tunnel syndrome, familial, MIM# 115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Mendeliome v0.12323	EIF2B5	Bryony Thompson Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
30 Mar 2022	Mendeliome v0.12322	EIF2B5	Bryony Thompson Publications for gene: EIF2B5 were set to
30 Mar 2022	Mendeliome v0.12321	P3H2	Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12321	P3H2	Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
30 Mar 2022	Mendeliome v0.12320	P3H2	Zornitza Stark Publications for gene: P3H2 were set to
30 Mar 2022	Mendeliome v0.12319	P3H2	Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12318	ADRB2	Zornitza Stark Mode of inheritance for gene: ADRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Mendeliome v0.12317	EIF2B5	Bryony Thompson Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12316	AKT3	Elena Savva Marked gene: AKT3 as ready
30 Mar 2022	Mendeliome v0.12316	AKT3	Elena Savva Gene: akt3 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12316	EIF2B5	Bryony Thompson reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 11704758, 12325082, 12707859, 14694060, 15136689, 18263758, 25843247, 25761052; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Mar 2022	Mendeliome v0.12316	EIF2B4	Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12316	EIF2B5	Bryony Thompson Deleted their review
30 Mar 2022	Mendeliome v0.12316	AKT3	Elena Savva Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
30 Mar 2022	Mendeliome v0.12316	AKT3	Elena Savva Publications for gene: AKT3 were set to
30 Mar 2022	Mendeliome v0.12315	AKT3	Elena Savva Mode of pathogenicity for gene: AKT3 was changed from to Other
30 Mar 2022	Mendeliome v0.12315	AKT3	Elena Savva Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Mar 2022	Mendeliome v0.12314	AKT3	Elena Savva reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22729224; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Mar 2022	Mendeliome v0.12314	EIF2B4	Bryony Thompson Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
30 Mar 2022	Mendeliome v0.12313	EIF2B4	Bryony Thompson Publications for gene: EIF2B4 were set to
30 Mar 2022	Mendeliome v0.12312	EIF2B4	Bryony Thompson Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12311	EIF2B4	Bryony Thompson reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 12707859, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Mar 2022	Mendeliome v0.12311	EIF2B4	Bryony Thompson Deleted their review
30 Mar 2022	Mendeliome v0.12311	EIF2B3	Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12311	AFP	Zornitza Stark Added comment: Comment when marking as ready: Raised or low levels of AFP are observed in some medical conditions, kept Amber due to possible phenotypic overlap.
30 Mar 2022	Mendeliome v0.12311	AFP	Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12311	AFP	Zornitza Stark Phenotypes for gene: AFP were changed from to Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970
30 Mar 2022	Mendeliome v0.12310	AFP	Zornitza Stark Publications for gene: AFP were set to
30 Mar 2022	Mendeliome v0.12309	AFP	Zornitza Stark Mode of inheritance for gene: AFP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12308	AFP	Zornitza Stark Classified gene: AFP as Amber List (moderate evidence)
30 Mar 2022	Mendeliome v0.12308	AFP	Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12307	EIF2B3	Bryony Thompson Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
30 Mar 2022	Mendeliome v0.12306	EIF2B3	Bryony Thompson Publications for gene: EIF2B3 were set to
30 Mar 2022	Mendeliome v0.12305	EIF2B3	Bryony Thompson Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12304	EIF2B3	Bryony Thompson reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Mar 2022	Mendeliome v0.12304	CA12	Ain Roesley changed review comment from: Glu143Lys found in 4 Israeli Bedouin families 2 other unrelated families reported with 1 missense (LoF demosntrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD); to: Glu143Lys found in 4 Israeli Bedouin families 2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD)
30 Mar 2022	Mendeliome v0.12304	EIF2B3	Bryony Thompson Deleted their review
30 Mar 2022	Mendeliome v0.12304	AHCY	Elena Savva Gene: ahcy has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12304	AHCY	Elena Savva Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
30 Mar 2022	Mendeliome v0.12304	AHCY	Elena Savva Publications for gene: AHCY were set to
30 Mar 2022	Mendeliome v0.12303	AHCY	Elena Savva Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12302	EIF2B1	Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12302	AGL	Elena Savva Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM#232400
30 Mar 2022	Mendeliome v0.12302	AGL	Elena Savva Gene: agl has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12302	AGL	Elena Savva Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12301	EIF2B1	Bryony Thompson Phenotypes for gene: EIF2B1 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
30 Mar 2022	Mendeliome v0.12300	EIF2B1	Bryony Thompson Publications for gene: EIF2B1 were set to
30 Mar 2022	Mendeliome v0.12299	EIF2B1	Bryony Thompson Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12298	EIF2B1	Bryony Thompson reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 26285592, 15776425, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380, ataxia, spasticity, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Mar 2022	Mendeliome v0.12298	EIF2B1	Bryony Thompson Deleted their review
30 Mar 2022	Mendeliome v0.12298	EIF2AK3	Bryony Thompson Gene: eif2ak3 has been classified as Green List (High Evidence).
30 Mar 2022	Mendeliome v0.12298	TIA1	Zornitza Stark Mode of inheritance for gene: TIA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12297	TIA1	Zornitza Stark Classified gene: TIA1 as Amber List (moderate evidence)
30 Mar 2022	Mendeliome v0.12297	TIA1	Zornitza Stark Gene: tia1 has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12296	AGL	Elena Savva reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12296	EIF2AK3	Bryony Thompson Phenotypes for gene: EIF2AK3 were changed from to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus; epiphyseal dysplasia/osteopenia; hepatic/renal dysfunction; intellectual disability/developmental delay
30 Mar 2022	Mendeliome v0.12295	TIA1	Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29235362, 29886022, 29773329, 29699721, 29216908, 24659297, 29457785, 28817800, 23401021, 23401021; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133, Welander distal myopathy (MIM#604454); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12295	EIF2AK3	Bryony Thompson Publications for gene: EIF2AK3 were set to
30 Mar 2022	Mendeliome v0.12294	EIF2AK3	Bryony Thompson Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12293	THSD1	Zornitza Stark Marked gene: THSD1 as ready
30 Mar 2022	Mendeliome v0.12293	THSD1	Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12293	THSD1	Zornitza Stark Phenotypes for gene: THSD1 were changed from to Aneurysm, intracranial berry, 12 , MIM# 618734
30 Mar 2022	Mendeliome v0.12292	THSD1	Zornitza Stark Publications for gene: THSD1 were set to
30 Mar 2022	Mendeliome v0.12291	THSD1	Zornitza Stark Mode of inheritance for gene: THSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Mendeliome v0.12290	THSD1	Zornitza Stark Classified gene: THSD1 as Amber List (moderate evidence)
30 Mar 2022	Mendeliome v0.12290	THSD1	Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12289	THSD1	Zornitza Stark edited their review of gene: THSD1: Changed publications: 27895300
30 Mar 2022	Mendeliome v0.12289	THSD1	Zornitza Stark reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aneurysm, intracranial berry, 12 , MIM# 618734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Mendeliome v0.12289	EFNA4	Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12289	EIF2AK3	Bryony Thompson reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183, 12960215, 16813601, 11997520, 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus, epiphyseal dysplasia/osteopenia, hepatic/renal dysfunction, intellectual disability/developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Mar 2022	Mendeliome v0.12289	EFNA4	Bryony Thompson Phenotypes for gene: EFNA4 were changed from to craniosynostosis MONDO:0015469
30 Mar 2022	Mendeliome v0.12288	RBMX	Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12288	RBMX	Zornitza Stark Classified gene: RBMX as Amber List (moderate evidence)
30 Mar 2022	Mendeliome v0.12288	RBMX	Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
30 Mar 2022	Mendeliome v0.12287	RBMX	Zornitza Stark gene: RBMX was added gene: RBMX was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RBMX were set to 25256757; 34260915 Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Review for gene: RBMX was set to AMBER Added comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data. Sources: Expert Review
30 Mar 2022	Mendeliome v0.12286	EFNA4	Bryony Thompson Publications for gene: EFNA4 were set to
30 Mar 2022	Mendeliome v0.12285	PADI6	Krithika Murali reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
30 Mar 2022	Mendeliome v0.12285	EFNA4	Bryony Thompson Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2022	Mendeliome v0.12284	PADI3	Krithika Murali reviewed gene: PADI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866708, 22381266, 30763140; Phenotypes: Uncombable hair syndrome - MIM#191480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12284	PACS2	Krithika Murali reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12284	EHBP1	Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12284	EHBP1	Bryony Thompson Phenotypes for gene: EHBP1 were changed from to {Prostate cancer, hereditary, 12} MIM#611868
29 Mar 2022	Mendeliome v0.12283	EHBP1	Bryony Thompson Classified gene: EHBP1 as Red List (low evidence)
29 Mar 2022	Mendeliome v0.12283	EHBP1	Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12282	EHBP1	Bryony Thompson reviewed gene: EHBP1: Rating: RED; Mode of pathogenicity: None; Publications: 18264098; Phenotypes: {Prostate cancer, hereditary, 12} MIM#611868; Mode of inheritance: None
29 Mar 2022	Mendeliome v0.12282	PABPN1	Krithika Murali reviewed gene: PABPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19080757, 33805441; Phenotypes: Oculopharyngeal muscular dystrophy - MIM#164300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12282	AGK	Elena Savva reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12282	EDNRB	Bryony Thompson Gene: ednrb has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12282	EFNA4	Bryony Thompson Classified gene: EFNA4 as Amber List (moderate evidence)
29 Mar 2022	Mendeliome v0.12282	EFNA4	Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12281	EFNA4	Bryony Thompson reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12281	P3H2	Krithika Murali reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12281	AFP	Elena Savva reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15280901, 18854864; Phenotypes: Alpha-fetoprotein deficiency MIM#615969, [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12281	ADRB2	Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12281	ADRB2	Elena Savva Phenotypes for gene: ADRB2 were changed from to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665
29 Mar 2022	Mendeliome v0.12280	ADRB2	Elena Savva Publications for gene: ADRB2 were set to
29 Mar 2022	Mendeliome v0.12280	ADRB2	Elena Savva Classified gene: ADRB2 as Red List (low evidence)
29 Mar 2022	Mendeliome v0.12280	ADRB2	Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12279	THRB	Zornitza Stark Marked gene: THRB as ready
29 Mar 2022	Mendeliome v0.12279	THRB	Zornitza Stark Gene: thrb has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12279	THRB	Zornitza Stark Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650
29 Mar 2022	Mendeliome v0.12278	THRB	Zornitza Stark Publications for gene: THRB were set to
29 Mar 2022	Mendeliome v0.12277	THRB	Zornitza Stark Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12276	THRB	Zornitza Stark reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 31590893; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12276	ADRB2	Elena Savva reviewed gene: ADRB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15724149; Phenotypes: Beta-2-adrenoreceptor agonist, reduced response to, {Asthma, nocturnal, susceptibility to} MIM#600807, {Obesity, susceptibility to} MIM#601665; Mode of inheritance: Unknown
29 Mar 2022	Mendeliome v0.12276	SLC6A2	Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12276	SLC6A2	Zornitza Stark Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715
29 Mar 2022	Mendeliome v0.12275	SLC6A2	Zornitza Stark Publications for gene: SLC6A2 were set to
29 Mar 2022	Mendeliome v0.12274	SLC6A2	Zornitza Stark Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12273	SLC6A2	Zornitza Stark Classified gene: SLC6A2 as Red List (low evidence)
29 Mar 2022	Mendeliome v0.12273	SLC6A2	Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12272	SLC6A2	Zornitza Stark reviewed gene: SLC6A2: Rating: RED; Mode of pathogenicity: None; Publications: 10684912; Phenotypes: Orthostatic intolerance, MIM# 604715; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12272	SMARCAD1	Zornitza Stark Gene: smarcad1 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12272	SMARCAD1	Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000 to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
29 Mar 2022	Mendeliome v0.12272	SMARCAD1	Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
29 Mar 2022	Mendeliome v0.12271	SMARCAD1	Zornitza Stark Publications for gene: SMARCAD1 were set to
29 Mar 2022	Mendeliome v0.12270	SMARCAD1	Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12269	SMARCAD1	Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12268	SMARCAD1	Zornitza Stark reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29409814; Phenotypes: Huriez syndrome, OMIM #181600, Basan syndrome, MIM# 129200, Adermatoglyphia, MIM# 136000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12268	SMARCB1	Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12268	SMARCB1	Zornitza Stark Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3, MIM# 614608
29 Mar 2022	Mendeliome v0.12267	SMARCB1	Zornitza Stark Publications for gene: SMARCB1 were set to
29 Mar 2022	Mendeliome v0.12266	SMARCB1	Zornitza Stark Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12265	SMARCB1	Zornitza Stark reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34205270, 31530938, 25168959; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12265	SMN2	Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12265	SMN2	Zornitza Stark Phenotypes for gene: SMN2 were changed from to {Spinal muscular atrophy, type III, modifier of} 253400
29 Mar 2022	Mendeliome v0.12264	SMN2	Zornitza Stark Mode of inheritance for gene: SMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12263	SMN2	Zornitza Stark Classified gene: SMN2 as Amber List (moderate evidence)
29 Mar 2022	Mendeliome v0.12263	SMN2	Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12262	SMN2	Zornitza Stark reviewed gene: SMN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Spinal muscular atrophy, type III, modifier of} 253400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12262	OTOG	Zornitza Stark Marked gene: OTOG as ready
29 Mar 2022	Mendeliome v0.12262	OTOG	Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12262	OTOG	Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B - MIM#614945
29 Mar 2022	Mendeliome v0.12261	EDNRB	Bryony Thompson Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome type 4A MONDO:0010192; sensorineural hearing loss; pigmentary abnormalities; Hirschsprung disease
29 Mar 2022	Mendeliome v0.12260	EDNRB	Bryony Thompson Publications for gene: EDNRB were set to
29 Mar 2022	Mendeliome v0.12259	EDNRB	Bryony Thompson Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12258	EDNRB	Bryony Thompson reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28502583, 25852447, 21373256, 16237557, 11773966, 11891690, 8001158, 10528251, 10528251, 19764031, 28236341; Phenotypes: Waardenburg syndrome type 4A (MONDO:0010192); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
29 Mar 2022	Mendeliome v0.12258	OTOG	Zornitza Stark Publications for gene: OTOG were set to
29 Mar 2022	Mendeliome v0.12257	OTOG	Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12256	OTC	Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Mar 2022	Mendeliome v0.12255	OTC	Zornitza Stark Marked gene: OTC as ready
29 Mar 2022	Mendeliome v0.12255	OTC	Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12255	OTC	Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency - MIM#311250
29 Mar 2022	Mendeliome v0.12254	OTC	Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Mar 2022	Mendeliome v0.12253	OSTM1	Zornitza Stark Marked gene: OSTM1 as ready
29 Mar 2022	Mendeliome v0.12253	OSTM1	Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12253	OSTM1	Zornitza Stark Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 (MIM#259720)
29 Mar 2022	Mendeliome v0.12252	OSTM1	Zornitza Stark Publications for gene: OSTM1 were set to
29 Mar 2022	Mendeliome v0.12251	OSTM1	Zornitza Stark Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12250	OSMR	Zornitza Stark Gene: osmr has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12250	OSMR	Zornitza Stark Phenotypes for gene: OSMR were changed from to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
29 Mar 2022	Mendeliome v0.12249	OSMR	Zornitza Stark Publications for gene: OSMR were set to
29 Mar 2022	Mendeliome v0.12248	OSMR	Zornitza Stark Mode of inheritance for gene: OSMR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12247	OSBPL2	Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12247	OSBPL2	Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67 - MIM#616340
29 Mar 2022	Mendeliome v0.12246	OSBPL2	Zornitza Stark Publications for gene: OSBPL2 were set to
29 Mar 2022	Mendeliome v0.12245	OSBPL2	Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12244	OR2J3	Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12244	OR2J3	Zornitza Stark Classified gene: OR2J3 as Red List (low evidence)
29 Mar 2022	Mendeliome v0.12244	OR2J3	Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
29 Mar 2022	Mendeliome v0.12243	OPN1SW	Zornitza Stark Gene: opn1sw has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12243	OPN1SW	Zornitza Stark Phenotypes for gene: OPN1SW were changed from to Colourblindness, tritan - MIM#190900
29 Mar 2022	Mendeliome v0.12242	OPN1SW	Zornitza Stark Publications for gene: OPN1SW were set to
29 Mar 2022	Mendeliome v0.12241	OPN1SW	Zornitza Stark Mode of inheritance for gene: OPN1SW was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12240	OPN1MW	Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12240	OPN1MW	Zornitza Stark Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, deutan - MIM#303800
29 Mar 2022	Mendeliome v0.12239	OPN1MW	Zornitza Stark Publications for gene: OPN1MW were set to
29 Mar 2022	Mendeliome v0.12238	OPN1MW	Zornitza Stark Mode of inheritance for gene: OPN1MW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Mar 2022	Mendeliome v0.12237	OPN1MW	Zornitza Stark Classified gene: OPN1MW as Amber List (moderate evidence)
29 Mar 2022	Mendeliome v0.12237	OPN1MW	Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12236	OPN1MW	Zornitza Stark Tag SV/CNV tag was added to gene: OPN1MW.
29 Mar 2022	Mendeliome v0.12236	OPN1LW	Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12236	OPN1LW	Zornitza Stark Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, protan - MIM#303900
29 Mar 2022	Mendeliome v0.12235	BLOC1S6	Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
29 Mar 2022	Mendeliome v0.12234	BLOC1S6	Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
29 Mar 2022	Mendeliome v0.12234	BLOC1S6	Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12233	BLOC1S6	Bryony Thompson reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12233	OPN1LW	Zornitza Stark Publications for gene: OPN1LW were set to
29 Mar 2022	Mendeliome v0.12232	OPN1LW	Zornitza Stark Mode of inheritance for gene: OPN1LW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Mar 2022	Mendeliome v0.12231	OPN1LW	Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence)
29 Mar 2022	Mendeliome v0.12231	OPN1LW	Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
29 Mar 2022	Mendeliome v0.12230	OPN1LW	Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW.
29 Mar 2022	Mendeliome v0.12230	SERPINA6	Zornitza Stark Gene: serpina6 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12230	SERPINA6	Zornitza Stark Phenotypes for gene: SERPINA6 were changed from to Corticosteroid-binding globulin deficiency, MIM#611489; Corticosteroid-binding globulin deficiency, MONDO#0012675
29 Mar 2022	Mendeliome v0.12229	SERPINA6	Zornitza Stark Publications for gene: SERPINA6 were set to
29 Mar 2022	Mendeliome v0.12228	SERPINA6	Zornitza Stark Mode of inheritance for gene: SERPINA6 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12227	SERPINA1	Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
29 Mar 2022	Mendeliome v0.12227	SERPINA1	Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282
29 Mar 2022	Mendeliome v0.12226	SERPINA1	Zornitza Stark Publications for gene: SERPINA1 were set to
29 Mar 2022	Mendeliome v0.12225	SERPINA1	Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12224	OTOG	Krithika Murali reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12224	OTC	Krithika Murali reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency - MIM#311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Mar 2022	Mendeliome v0.12224	OSTM1	Krithika Murali reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Mar 2022	Mendeliome v0.12224	OSMR	Krithika Murali reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375894, 19528426, 25054142, 20507362, 19690585; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12224	OSBPL2	Krithika Murali reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67 - MIM#616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12224	OR2J3	Krithika Murali changed review comment from: No mendelian gene disease association; to: No mendelian gene disease association reported
29 Mar 2022	Mendeliome v0.12224	OR2J3	Krithika Murali reviewed gene: OR2J3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Mar 2022	Mendeliome v0.12224	OPN1SW	Krithika Murali reviewed gene: OPN1SW: Rating: GREEN; Mode of pathogenicity: None; Publications: 1531728, 2937147, 22065927, 32400513, 31944634; Phenotypes: Colorblindness, tritan - MIM#190900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2022	Mendeliome v0.12224	OPN1MW	Krithika Murali reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Mar 2022	Mendeliome v0.12224	OPN1LW	Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
28 Mar 2022	Mendeliome v0.12224	SERPINA6	Samantha Ayres reviewed gene: SERPINA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502797, 27214312, 21795453, 34308089, 22013108; Phenotypes: Corticosteroid-binding globulin deficiency, MIM#611489, Corticosteroid-binding globulin deficiency, MONDO#0012675; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12224	SERPINA1	Samantha Ayres changed review comment from: Well established gene-disease relationship Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement. MUTATIONAL & CLINICAL SPECTRUM ZZ genotype: 2% have severe, neonatal/early-onset liver disease (potentially fatal/requiring liver transplantation), up to 6% have childhood onset liver disease. Also associated with adult-onset lung disease particularly emphysema (50%+ penetrance) - smoking is an important risk factor (close to 100% penetrance). TREATMENT There is no specific treatment for liver disease beyond transplant. There is treatment (AAT augmentation therapy) available to delay progression of lung disease phenotype.
28 Mar 2022	Mendeliome v0.12224	SERPINA1	Samantha Ayres changed review comment from: Well established gene-disease association Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.
28 Mar 2022	Mendeliome v0.12224	SERPINA1	Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12224	THRA	Zornitza Stark Marked gene: THRA as ready
28 Mar 2022	Mendeliome v0.12224	THRA	Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12224	THRA	Zornitza Stark Phenotypes for gene: THRA were changed from to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
28 Mar 2022	Mendeliome v0.12223	THRA	Zornitza Stark Publications for gene: THRA were set to
28 Mar 2022	Mendeliome v0.12222	THRA	Zornitza Stark Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12221	THRA	Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 27381958, 24847459, 27144938; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12221	TGM1	Zornitza Stark Marked gene: TGM1 as ready
28 Mar 2022	Mendeliome v0.12221	TGM1	Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12221	TGM1	Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
28 Mar 2022	Mendeliome v0.12220	TGM1	Zornitza Stark Publications for gene: TGM1 were set to
28 Mar 2022	Mendeliome v0.12219	TGM1	Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12218	TGM1	Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12218	TGM3	Zornitza Stark Marked gene: TGM3 as ready
28 Mar 2022	Mendeliome v0.12218	TGM3	Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12218	TGM3	Zornitza Stark Phenotypes for gene: TGM3 were changed from to Uncombable hair syndrome 2 MIM#617251
28 Mar 2022	Mendeliome v0.12217	TGM3	Zornitza Stark Publications for gene: TGM3 were set to
28 Mar 2022	Mendeliome v0.12216	TGM3	Zornitza Stark Mode of inheritance for gene: TGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12215	TGM3	Zornitza Stark Classified gene: TGM3 as Amber List (moderate evidence)
28 Mar 2022	Mendeliome v0.12215	TGM3	Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12214	OAT	Zornitza Stark Marked gene: OAT as ready
28 Mar 2022	Mendeliome v0.12214	OAT	Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12214	OAT	Zornitza Stark Phenotypes for gene: OAT were changed from to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
28 Mar 2022	Mendeliome v0.12213	OAT	Zornitza Stark Publications for gene: OAT were set to
28 Mar 2022	Mendeliome v0.12212	OAT	Zornitza Stark Mode of inheritance for gene: OAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12211	NUP93	Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12211	NUP93	Zornitza Stark Phenotypes for gene: NUP93 were changed from to Nephrotic syndrome, type 12 - MIM#616892
28 Mar 2022	Mendeliome v0.12210	NUP93	Zornitza Stark Publications for gene: NUP93 were set to
28 Mar 2022	Mendeliome v0.12209	NUP93	Zornitza Stark Mode of inheritance for gene: NUP93 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12208	NUP62	Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12208	NUP62	Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile - MIM#271930
28 Mar 2022	Mendeliome v0.12207	NUP62	Zornitza Stark Publications for gene: NUP62 were set to
28 Mar 2022	Mendeliome v0.12206	NUP62	Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12205	NUP62	Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
28 Mar 2022	Mendeliome v0.12205	NUP62	Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12204	NUP62	Zornitza Stark Tag founder tag was added to gene: NUP62.
28 Mar 2022	Mendeliome v0.12204	ADH1B	Zornitza Stark Gene: adh1b has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12204	ADH1B	Zornitza Stark Mode of inheritance for gene: ADH1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12203	CASP8	Zornitza Stark Added comment: Comment when marking as ready: Amber in view of the functional data.
28 Mar 2022	Mendeliome v0.12203	CASP8	Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12203	CASP8	Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
28 Mar 2022	Mendeliome v0.12202	CASP8	Zornitza Stark Publications for gene: CASP8 were set to
28 Mar 2022	Mendeliome v0.12201	CASP8	Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12200	CASP8	Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
28 Mar 2022	Mendeliome v0.12200	CASP8	Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12199	ADGRV1	Zornitza Stark Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
28 Mar 2022	Mendeliome v0.12198	ADCY3	Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12198	ADCY3	Zornitza Stark Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885
28 Mar 2022	Mendeliome v0.12197	ADCY3	Zornitza Stark Publications for gene: ADCY3 were set to
28 Mar 2022	Mendeliome v0.12196	ADCY3	Zornitza Stark Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12195	ADCY3	Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
28 Mar 2022	Mendeliome v0.12195	ADCY3	Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12194	TGFB3	Zornitza Stark Marked gene: TGFB3 as ready
28 Mar 2022	Mendeliome v0.12194	TGFB3	Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12194	TGFB3	Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
28 Mar 2022	Mendeliome v0.12193	TGFB3	Zornitza Stark Publications for gene: TGFB3 were set to
28 Mar 2022	Mendeliome v0.12192	TGFB3	Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12191	TGFB3	Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 25835445, 15639475; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12191	TGFB2	Zornitza Stark Marked gene: TGFB2 as ready
28 Mar 2022	Mendeliome v0.12191	TGFB2	Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12191	TGFB2	Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
28 Mar 2022	Mendeliome v0.12190	TGFB2	Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12189	TGFB2	Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12189	TGFB1	Zornitza Stark Marked gene: TGFB1 as ready
28 Mar 2022	Mendeliome v0.12189	TGFB1	Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12189	TGFB1	Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Camurati-Engelmann disease, MIM# 131300
28 Mar 2022	Mendeliome v0.12188	TGFB1	Zornitza Stark Publications for gene: TGFB1 were set to
28 Mar 2022	Mendeliome v0.12187	TGFB1	Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12186	TGFB1	Zornitza Stark reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29483653, 10973241, 35315241, 30721323; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213, Camurati-Engelmann disease, MIM# 131300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12186	TG	Zornitza Stark Marked gene: TG as ready
28 Mar 2022	Mendeliome v0.12186	TG	Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12186	TG	Zornitza Stark Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3, MIM# 274700
28 Mar 2022	Mendeliome v0.12185	TG	Zornitza Stark Publications for gene: TG were set to
28 Mar 2022	Mendeliome v0.12184	TG	Zornitza Stark Mode of inheritance for gene: TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12183	TG	Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33832185, 19169491, 28620499, 18631008, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12183	OAT	Krithika Murali Deleted their comment
28 Mar 2022	Mendeliome v0.12183	OAT	Krithika Murali edited their review of gene: OAT: Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12183	OAT	Krithika Murali reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: None
28 Mar 2022	Mendeliome v0.12183	NUP93	Krithika Murali reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391; Phenotypes: Nephrotic syndrome, type 12 - MIM#616892; Mode of inheritance: None
28 Mar 2022	Mendeliome v0.12183	ADRB1	Elena Savva Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
28 Mar 2022	Mendeliome v0.12182	NUP62	Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12182	ADRB1	Elena Savva Phenotypes for gene: ADRB1 were changed from to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
28 Mar 2022	Mendeliome v0.12181	ADRB1	Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12181	ADRB1	Elena Savva Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Mar 2022	Mendeliome v0.12182	ADRB1	Elena Savva Publications for gene: ADRB1 were set to
28 Mar 2022	Mendeliome v0.12181	ADRB1	Elena Savva Classified gene: ADRB1 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12181	ADRB1	Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12180	ADRB1	Elena Savva reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Mar 2022	Mendeliome v0.12180	NTN1	Zornitza Stark Marked gene: NTN1 as ready
28 Mar 2022	Mendeliome v0.12180	NTN1	Zornitza Stark Gene: ntn1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12180	NTN1	Zornitza Stark Phenotypes for gene: NTN1 were changed from to Mirror movements 4 MIM#618264
28 Mar 2022	Mendeliome v0.12179	NTN1	Zornitza Stark Publications for gene: NTN1 were set to
28 Mar 2022	Mendeliome v0.12178	NTN1	Zornitza Stark Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12177	NSD1	Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12177	NSD1	Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
28 Mar 2022	Mendeliome v0.12176	NSD1	Zornitza Stark Publications for gene: NSD1 were set to
28 Mar 2022	Mendeliome v0.12175	NSD1	Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12174	NRCAM	Zornitza Stark Gene: nrcam has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12174	NR4A3	Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12174	NR4A3	Zornitza Stark Classified gene: NR4A3 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12174	NR4A3	Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12173	NKX2-5	Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12173	NKX2-5	Zornitza Stark Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
28 Mar 2022	Mendeliome v0.12172	NKX2-5	Zornitza Stark reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12172	NKX2-5	Zornitza Stark Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)
28 Mar 2022	Mendeliome v0.12171	NKX2-5	Zornitza Stark Publications for gene: NKX2-5 were set to
28 Mar 2022	Mendeliome v0.12170	NKX2-5	Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12169	NKX2-1	Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12169	NKX2-1	Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
28 Mar 2022	Mendeliome v0.12168	NKX2-1	Zornitza Stark Publications for gene: NKX2-1 were set to
28 Mar 2022	Mendeliome v0.12167	NKX2-1	Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12166	NDUFAF5	Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12166	NDUFAF5	Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
28 Mar 2022	Mendeliome v0.12165	NDUFAF5	Zornitza Stark Publications for gene: NDUFAF5 were set to
28 Mar 2022	Mendeliome v0.12164	NDUFAF5	Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12163	NDUFS4	Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12163	NDUFS4	Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
28 Mar 2022	Mendeliome v0.12162	NDUFS4	Zornitza Stark Publications for gene: NDUFS4 were set to
28 Mar 2022	Mendeliome v0.12161	NDUFS4	Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12160	NDUFV2	Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12160	NDUFV2	Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
28 Mar 2022	Mendeliome v0.12159	ADH1B	Elena Savva Phenotypes for gene: ADH1B were changed from to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780
28 Mar 2022	Mendeliome v0.12159	ADH1B	Elena Savva Mode of pathogenicity for gene: ADH1B was changed from to None
28 Mar 2022	Mendeliome v0.12158	ADH1B	Elena Savva Classified gene: ADH1B as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12158	ADH1B	Elena Savva Gene: adh1b has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12157	NDUFV2	Zornitza Stark Publications for gene: NDUFV2 were set to
28 Mar 2022	Mendeliome v0.12156	NDUFV2	Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12155	ADH1B	Elena Savva reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown
28 Mar 2022	Mendeliome v0.12155	ADGRV1	Elena Savva Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
28 Mar 2022	Mendeliome v0.12154	CACNA1F	Zornitza Stark Tag SV/CNV tag was added to gene: CACNA1F.
28 Mar 2022	Mendeliome v0.12154	CA2	Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
28 Mar 2022	Mendeliome v0.12153	CA2	Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12152	CA2	Zornitza Stark Deleted their comment
28 Mar 2022	Mendeliome v0.12152	CASP8	Ain Roesley changed review comment from: Boderline red/amber 1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035) Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.; to: Borderline red/amber 1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035) Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.
28 Mar 2022	Mendeliome v0.12152	CASP8	Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: utoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12152	ADGRV1	Elena Savva Mode of pathogenicity for gene: ADGRV1 was changed from to None
28 Mar 2022	Mendeliome v0.12152	ADGRV1	Elena Savva Phenotypes for gene: ADGRV1 were changed from to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
28 Mar 2022	Mendeliome v0.12151	ADGRV1	Elena Savva Gene: adgrv1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12151	ADGRV1	Elena Savva Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12150	ADGRV1	Elena Savva reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Febrile seizures, familial, 4 MIM#604352, Usher syndrome, type 2C MIM#60547, Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12150	CASP8	Ain Roesley Deleted their review
28 Mar 2022	Mendeliome v0.12150	CASP8	Ain Roesley Deleted their comment
28 Mar 2022	Mendeliome v0.12150	CASP8	Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 33356695; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12150	ADCY3	Elena Savva reviewed gene: ADCY3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11055432, 29311636, 29311637; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12150	CASP10	Ain Roesley Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II MIM#603909 to Autoimmune lymphoproliferative syndrome, type II MIM#603909
28 Mar 2022	Mendeliome v0.12149	CASP10	Ain Roesley Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
28 Mar 2022	Mendeliome v0.12149	CASP10	Ain Roesley Gene: casp10 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12149	CASP10	Ain Roesley Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12149	CASP10	Ain Roesley Publications for gene: CASP10 were set to
28 Mar 2022	Mendeliome v0.12148	CASP10	Ain Roesley reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12148	NUBPL	Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12148	NUBPL	Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
28 Mar 2022	Mendeliome v0.12147	NUBPL	Zornitza Stark Publications for gene: NUBPL were set to
28 Mar 2022	Mendeliome v0.12146	NUBPL	Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12145	NTRK1	Zornitza Stark Marked gene: NTRK1 as ready
28 Mar 2022	Mendeliome v0.12145	NTRK1	Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12145	NTRK1	Zornitza Stark Phenotypes for gene: NTRK1 were changed from to Insensitivity to pain, congenital, with anhidrosis - MIM#256800
28 Mar 2022	Mendeliome v0.12144	NTRK1	Zornitza Stark Publications for gene: NTRK1 were set to
28 Mar 2022	Mendeliome v0.12143	NTRK1	Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12142	NTF4	Zornitza Stark Marked gene: NTF4 as ready
28 Mar 2022	Mendeliome v0.12142	NTF4	Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12142	NTF4	Zornitza Stark Phenotypes for gene: NTF4 were changed from to Glaucoma 1, open angle, 1O - MIIM#613100
28 Mar 2022	Mendeliome v0.12141	NTF4	Zornitza Stark Publications for gene: NTF4 were set to
28 Mar 2022	Mendeliome v0.12140	NTF4	Zornitza Stark Mode of inheritance for gene: NTF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12139	CASK	Ain Roesley Phenotypes for gene: CASK were changed from FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422 to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
28 Mar 2022	Mendeliome v0.12139	NTF4	Zornitza Stark Classified gene: NTF4 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12139	NTF4	Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12138	CASK	Ain Roesley Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
28 Mar 2022	Mendeliome v0.12137	CASK	Ain Roesley Gene: cask has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12137	CASK	Ain Roesley Gene: cask has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12137	CASK	Ain Roesley Publications for gene: CASK were set to
28 Mar 2022	Mendeliome v0.12136	CASK	Ain Roesley Mode of inheritance for gene: CASK 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)
28 Mar 2022	Mendeliome v0.12135	NSUN2	Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12135	NSUN2	Zornitza Stark Phenotypes for gene: NSUN2 were changed from to Mental retardation, autosomal recessive 5 - MIM#611091
28 Mar 2022	Mendeliome v0.12134	CASK	Ain Roesley reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24278995; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; 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
28 Mar 2022	Mendeliome v0.12134	NSUN2	Zornitza Stark Publications for gene: NSUN2 were set to
28 Mar 2022	Mendeliome v0.12133	NSUN2	Zornitza Stark Mode of inheritance for gene: NSUN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12132	NSUN2	Zornitza Stark reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731, 22577224, 35126837; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12132	NRXN1	Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12132	NRXN1	Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
28 Mar 2022	Mendeliome v0.12131	NRXN1	Zornitza Stark Publications for gene: NRXN1 were set to
28 Mar 2022	Mendeliome v0.12130	NRXN1	Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12129	CARD11	Ain Roesley Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
28 Mar 2022	Mendeliome v0.12128	CARD11	Ain Roesley Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
28 Mar 2022	Mendeliome v0.12128	CARD11	Ain Roesley Gene: card11 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12128	CARD11	Ain Roesley Publications for gene: CARD11 were set to
28 Mar 2022	Mendeliome v0.12128	CARD11	Ain Roesley Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12127	CARD11	Ain Roesley reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12127	CALM3	Ain Roesley Gene: calm3 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12127	CALM3	Ain Roesley Phenotypes for gene: CALM3 were changed from to Long QT syndrome 16 MIM#618782; CPVT
28 Mar 2022	Mendeliome v0.12127	CALM3	Ain Roesley Publications for gene: CALM3 were set to
28 Mar 2022	Mendeliome v0.12127	CALM3	Ain Roesley Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12126	CALM3	Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 16 MIM#618782, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12126	CALM2	Ain Roesley Gene: calm2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12126	CALM2	Ain Roesley Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 MIM#616249; CPVT
28 Mar 2022	Mendeliome v0.12125	CALM2	Ain Roesley Publications for gene: CALM2 were set to
28 Mar 2022	Mendeliome v0.12125	CALM2	Ain Roesley Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12124	CALM2	Ain Roesley reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12124	CALM1	Ain Roesley Gene: calm1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12124	CALM1	Ain Roesley Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 MIM#616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916
28 Mar 2022	Mendeliome v0.12123	CALM1	Ain Roesley Publications for gene: CALM1 were set to
28 Mar 2022	Mendeliome v0.12123	CALM1	Ain Roesley Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12122	CALM1	Ain Roesley reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31170290; Phenotypes: Long QT syndrome 14 MIM#616247, Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12122	NRL	Zornitza Stark Gene: nrl has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12122	NRL	Zornitza Stark Phenotypes for gene: NRL were changed from to Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type
28 Mar 2022	Mendeliome v0.12121	NRL	Zornitza Stark Publications for gene: NRL were set to
28 Mar 2022	Mendeliome v0.12120	NRL	Zornitza Stark Mode of inheritance for gene: NRL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12119	CACNA2D4	Ain Roesley Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478
28 Mar 2022	Mendeliome v0.12118	CACNA2D4	Ain Roesley Phenotypes for gene: CACNA2D4 were changed from to Retinal cone dystrophy 4 MIM#610478
28 Mar 2022	Mendeliome v0.12118	CACNA2D4	Ain Roesley Gene: cacna2d4 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12118	CACNA2D4	Ain Roesley Publications for gene: CACNA2D4 were set to
28 Mar 2022	Mendeliome v0.12118	CACNA2D4	Ain Roesley Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12117	CACNA2D4	Ain Roesley reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12117	NR2F2	Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12117	NR2F2	Zornitza Stark Phenotypes for gene: NR2F2 were changed from to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779
28 Mar 2022	Mendeliome v0.12116	NR2F2	Zornitza Stark Publications for gene: NR2F2 were set to
28 Mar 2022	Mendeliome v0.12115	SERAC1	Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12115	SERAC1	Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
28 Mar 2022	Mendeliome v0.12114	SERAC1	Zornitza Stark Publications for gene: SERAC1 were set to
28 Mar 2022	Mendeliome v0.12113	SERAC1	Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12112	SEMA3A	Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12112	SEMA3A	Zornitza Stark Phenotypes for gene: SEMA3A were changed from to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature
28 Mar 2022	Mendeliome v0.12111	SEMA3A	Zornitza Stark Publications for gene: SEMA3A were set to
28 Mar 2022	Mendeliome v0.12110	SEMA3A	Zornitza Stark Mode of inheritance for gene: SEMA3A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12109	SCP2	Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12109	SCP2	Zornitza Stark Publications for gene: SCP2 were set to 16685654
28 Mar 2022	Mendeliome v0.12108	SCP2	Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
28 Mar 2022	Mendeliome v0.12108	SCP2	Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
28 Mar 2022	Mendeliome v0.12107	SCP2	Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12107	CACNA2D2	Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
28 Mar 2022	Mendeliome v0.12106	SCP2	Zornitza Stark Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
28 Mar 2022	Mendeliome v0.12105	CACNA2D2	Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
28 Mar 2022	Mendeliome v0.12105	CACNA2D2	Ain Roesley Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
28 Mar 2022	Mendeliome v0.12104	SCP2	Zornitza Stark Publications for gene: SCP2 were set to
28 Mar 2022	Mendeliome v0.12104	CACNA2D2	Ain Roesley Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
28 Mar 2022	Mendeliome v0.12103	CACNA2D2	Ain Roesley Publications for gene: CACNA2D2 were set to
28 Mar 2022	Mendeliome v0.12103	CACNA2D2	Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12103	SCP2	Zornitza Stark Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12102	SCP2	Zornitza Stark Classified gene: SCP2 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12102	SCP2	Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12101	CACNA2D2	Ain Roesley edited their review of gene: CACNA2D2: Changed publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Changed phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501
28 Mar 2022	Mendeliome v0.12101	CACNA2D2	Ain Roesley Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12100	CACNA2D2	Ain Roesley reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Phenotypes: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12100	CACNA1F	Ain Roesley Mode of inheritance for gene: CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
28 Mar 2022	Mendeliome v0.12099	CACNA1F	Ain Roesley Gene: cacna1f has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12099	TUBB1	Zornitza Stark Marked gene: TUBB1 as ready
28 Mar 2022	Mendeliome v0.12099	TUBB1	Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12099	CACNA1F	Ain Roesley Phenotypes for gene: CACNA1F were changed from to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
28 Mar 2022	Mendeliome v0.12099	CACNA1F	Ain Roesley Publications for gene: CACNA1F were set to
28 Mar 2022	Mendeliome v0.12099	TUBB1	Zornitza Stark Phenotypes for gene: TUBB1 were changed from to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141
28 Mar 2022	Mendeliome v0.12099	CACNA1F	Ain Roesley Mode of inheritance for gene: CACNA1F was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
28 Mar 2022	Mendeliome v0.12098	TUBB1	Zornitza Stark Publications for gene: TUBB1 were set to
28 Mar 2022	Mendeliome v0.12097	CACNA1F	Ain Roesley reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559, 26075273, 25999675; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12097	TUBB1	Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12096	TUBB1	Zornitza Stark reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12096	SCARB2	Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12096	SCARB2	Zornitza Stark Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
28 Mar 2022	Mendeliome v0.12095	SCARB2	Zornitza Stark Publications for gene: SCARB2 were set to
28 Mar 2022	Mendeliome v0.12094	SCARB2	Zornitza Stark Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12093	SASH1	Zornitza Stark Gene: sash1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12093	SASH1	Zornitza Stark Phenotypes for gene: SASH1 were changed from to Dyschromatosis universalis hereditaria 1, MIM #127500; familial generalized lentiginosis MONDO:007891
28 Mar 2022	Mendeliome v0.12092	SASH1	Zornitza Stark Publications for gene: SASH1 were set to
28 Mar 2022	Mendeliome v0.12091	SASH1	Zornitza Stark Mode of inheritance for gene: SASH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12090	SASH1	Zornitza Stark reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM# 127500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12090	CABP2	Ain Roesley Gene: cabp2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12090	TUBB4B	Zornitza Stark Marked gene: TUBB4B as ready
28 Mar 2022	Mendeliome v0.12090	TUBB4B	Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12090	CABP2	Ain Roesley Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
28 Mar 2022	Mendeliome v0.12090	CABP2	Ain Roesley Publications for gene: CABP2 were set to
28 Mar 2022	Mendeliome v0.12090	TUBB4B	Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650
28 Mar 2022	Mendeliome v0.12090	CABP2	Ain Roesley Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12089	CABP2	Ain Roesley reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12089	TUBB4B	Zornitza Stark Publications for gene: TUBB4B were set to
28 Mar 2022	Mendeliome v0.12088	TUBB4B	Zornitza Stark reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240325; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12088	CA2	Ain Roesley Publications for gene: CA2 were set to 34624559; 33555497; 12566520; 7627193
28 Mar 2022	Mendeliome v0.12087	TUBB4B	Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12086	TUFM	Zornitza Stark Marked gene: TUFM as ready
28 Mar 2022	Mendeliome v0.12086	TUFM	Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12086	TUFM	Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
28 Mar 2022	Mendeliome v0.12085	TUFM	Zornitza Stark Publications for gene: TUFM were set to
28 Mar 2022	Mendeliome v0.12084	TUFM	Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12084	CA2	Ain Roesley Publications for gene: CA2 were set to
28 Mar 2022	Mendeliome v0.12083	CA2	Ain Roesley Gene: ca2 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12083	CA2	Ain Roesley reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12083	NR2F2	Zornitza Stark Mode of inheritance for gene: NR2F2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12082	CA12	Ain Roesley Gene: ca12 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12082	CA12	Ain Roesley Phenotypes for gene: CA12 were changed from to Hyperchlorhidrosis, isolated MIM#143860
28 Mar 2022	Mendeliome v0.12081	CA12	Ain Roesley Publications for gene: CA12 were set to
28 Mar 2022	Mendeliome v0.12081	CA12	Ain Roesley Mode of inheritance for gene: CA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12080	NR2E3	Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12080	CA12	Ain Roesley reviewed gene: CA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035102, 21184099, 26911677; Phenotypes: Hyperchlorhidrosis, isolated MIM#143860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12080	NR2E3	Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Retinitis pigmentosa 37 - MIM#611131; Enhanced S-cone syndrome - MIM#268100; Goldmann-Favre syndrome - MONDO#0100289; retinal dystrophy
28 Mar 2022	Mendeliome v0.12079	NR2E3	Zornitza Stark Publications for gene: NR2E3 were set to
28 Mar 2022	Mendeliome v0.12078	NR2E3	Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12077	NR0B2	Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12077	NR0B2	Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12076	NR0B2	Zornitza Stark Phenotypes for gene: NR0B2 were changed from to Obesity, mild, early-onset, MIM# 601665
28 Mar 2022	Mendeliome v0.12075	NR0B2	Zornitza Stark Classified gene: NR0B2 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12075	NR0B2	Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12074	NPSR1	Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12074	NPSR1	Zornitza Stark Phenotypes for gene: NPSR1 were changed from to {Asthma, susceptibility to, 2} 608584
28 Mar 2022	Mendeliome v0.12073	NPSR1	Zornitza Stark Mode of inheritance for gene: NPSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12072	NPSR1	Zornitza Stark Classified gene: NPSR1 as Red List (low evidence)
28 Mar 2022	Mendeliome v0.12072	NPSR1	Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
28 Mar 2022	Mendeliome v0.12071	ACER3	Zornitza Stark edited their review of gene: ACER3: Added comment: Additional publication (Dehvani et al., 2021; PMID: 34281620) detailing three further unrelated cases, each with novel homozygous variants in the ACER3 gene. All individuals displayed features of progressive leukoencephalopathy, developmental delay, hypotonia, appendicular spasticity, and dystonia. Early development is apparently normal followed by symptoms of stagnation and neurologic regression (onset within first year of life).; Changed rating: GREEN; Changed publications: 32816236, 26792856, 34281620; Changed phenotypes: Leukodystrophy, progressive, early childhood-onset, MIM:617762
28 Mar 2022	Mendeliome v0.12071	LIAS	Alison Yeung Gene: lias has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12071	LIAS	Alison Yeung Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
28 Mar 2022	Mendeliome v0.12070	LIAS	Alison Yeung Publications for gene: LIAS were set to
28 Mar 2022	Mendeliome v0.12069	LIAS	Alison Yeung Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12068	LIAS	Alison Yeung reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12068	LHX4	Alison Yeung Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
28 Mar 2022	Mendeliome v0.12067	LHX4	Alison Yeung Gene: lhx4 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12067	LHX4	Alison Yeung Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12066	LHX4	Alison Yeung reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12066	SERAC1	Samantha Ayres reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205472, 32684373, 24741715; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12066	SEMA3A	Samantha Ayres reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28075028, 33369061, 20301509, 21059704, 24124006, 22927827; Phenotypes: Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897, congenital heart disease, short stature; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12066	LHX3	Alison Yeung Gene: lhx3 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12066	LHX3	Alison Yeung Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
28 Mar 2022	Mendeliome v0.12065	LHX3	Alison Yeung Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12064	LHX3	Alison Yeung reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12064	LHB	Alison Yeung Gene: lhb has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12064	LHB	Alison Yeung Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300
28 Mar 2022	Mendeliome v0.12063	LHB	Alison Yeung Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12062	LHB	Alison Yeung reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
28 Mar 2022	Mendeliome v0.12062	SCP2	Samantha Ayres changed review comment from: Just one case reported in the literature in 2006; to: Just one case reported in the literature in 2006
28 Mar 2022	Mendeliome v0.12062	SCP2	Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
28 Mar 2022	Mendeliome v0.12062	TUBB1	Manny Jacobs reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32757236, PMID: 31565851, PMID: 29333906, PMID: 18849486; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12062	SCARB2	Samantha Ayres reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12062	SASH1	Samantha Ayres reviewed gene: SASH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23333244, 27885802, 32981204; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM #127500, familial generalized lentiginosis MONDO:007891; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Mar 2022	Mendeliome v0.12062	NUBPL	Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12062	TUBB4B	Manny Jacobs reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29198720; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12062	LGI1	Alison Yeung Gene: lgi1 has been classified as Green List (High Evidence).
28 Mar 2022	Mendeliome v0.12062	LGI1	Alison Yeung Phenotypes for gene: LGI1 were changed from to Epilepsy, familial temporal lobe, 1, MIM# 6000512
28 Mar 2022	Mendeliome v0.12061	LGI1	Alison Yeung Publications for gene: LGI1 were set to
28 Mar 2022	Mendeliome v0.12060	LGI1	Alison Yeung Mode of inheritance for gene: LGI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12059	NTRK1	Krithika Murali reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12059	NTF4	Krithika Murali reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: 20806036, 19765683, 22815630; Phenotypes: Glaucoma 1, open angle, 1O - MIIM#613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Mar 2022	Mendeliome v0.12059	NRXN1	Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Mar 2022	Mendeliome v0.12059	LGI1	Alison Yeung reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711109, 12205652, 15079010, 22496201; Phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12059	LEMD3	Alison Yeung Gene: lemd3 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12059	LEMD3	Alison Yeung Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
27 Mar 2022	Mendeliome v0.12058	LEMD3	Alison Yeung Publications for gene: LEMD3 were set to
27 Mar 2022	Mendeliome v0.12057	LEMD3	Alison Yeung Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12056	NRL	Krithika Murali reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15591106, 29385733, 21981118, 10192380, 9344665; Phenotypes: Retinitis pigmentosa 27 - MIM#613750, Retinal degeneration, autosomal recessive, clumped pigment type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12056	LDLRAP1	Alison Yeung Gene: ldlrap1 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12056	LDLRAP1	Alison Yeung Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813
27 Mar 2022	Mendeliome v0.12055	LDLRAP1	Alison Yeung Publications for gene: LDLRAP1 were set to
27 Mar 2022	Mendeliome v0.12054	LDLRAP1	Alison Yeung Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12053	LDLRAP1	Alison Yeung reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
27 Mar 2022	Mendeliome v0.12053	LDHB	Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12053	LDHB	Alison Yeung Phenotypes for gene: LDHB were changed from to Lactate dehydrogenase B deficiency, MIM# 614128
27 Mar 2022	Mendeliome v0.12052	LDHB	Alison Yeung Publications for gene: LDHB were set to
27 Mar 2022	Mendeliome v0.12051	LDHB	Alison Yeung Mode of inheritance for gene: LDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12050	LDHB	Alison Yeung Classified gene: LDHB as Red List (low evidence)
27 Mar 2022	Mendeliome v0.12050	LDHB	Alison Yeung Added comment: Comment on list classification: Not associated with clinical disease
27 Mar 2022	Mendeliome v0.12050	LDHB	Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12049	TUFM	Manny Jacobs reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132884, PMID: 26741492, PMID: 17160893, PMID: 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12049	LDHB	Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12049	LCAT	Alison Yeung Marked gene: LCAT as ready
27 Mar 2022	Mendeliome v0.12049	LCAT	Alison Yeung Gene: lcat has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12049	LCAT	Alison Yeung Phenotypes for gene: LCAT were changed from to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
27 Mar 2022	Mendeliome v0.12048	LCAT	Alison Yeung Publications for gene: LCAT were set to
27 Mar 2022	Mendeliome v0.12047	LCAT	Alison Yeung Mode of inheritance for gene: LCAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12046	LCAT	Alison Yeung reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900, Fish-Eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
27 Mar 2022	Mendeliome v0.12046	LCA5	Alison Yeung Gene: lca5 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12046	LCA5	Alison Yeung Phenotypes for gene: LCA5 were changed from to Leber Congenital Amaurosis 5, MIM# 604537
27 Mar 2022	Mendeliome v0.12045	LCA5	Alison Yeung Publications for gene: LCA5 were set to
27 Mar 2022	Mendeliome v0.12044	LCA5	Alison Yeung Mode of inheritance for gene: LCA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12043	LCA5	Alison Yeung reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546029; Phenotypes: Leber Congenital Amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12043	NR2F2	Krithika Murali reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12043	NR2E3	Krithika Murali reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301590, 30324420, 19718767, 33138239; Phenotypes: Retinitis pigmentosa 37 - MIM#611131, Enhanced S-cone syndrome - MIM#268100, Goldmann-Favre syndrome - MONDO#0100289, retinal dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12043	NR0B2	Krithika Murali reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
27 Mar 2022	Mendeliome v0.12043	NPSR1	Krithika Murali reviewed gene: NPSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
27 Mar 2022	Mendeliome v0.12043	MSMB	Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12043	MSMB	Zornitza Stark Phenotypes for gene: MSMB were changed from to {Prostate cancer, hereditary, 13} 611928
27 Mar 2022	Mendeliome v0.12042	MSMB	Zornitza Stark Mode of inheritance for gene: MSMB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12041	MSMB	Zornitza Stark Classified gene: MSMB as Red List (low evidence)
27 Mar 2022	Mendeliome v0.12041	MSMB	Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12040	MSMB	Zornitza Stark reviewed gene: MSMB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Prostate cancer, hereditary, 13} 611928; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12040	SON	Zornitza Stark Gene: son has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12040	SON	Zornitza Stark Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140
27 Mar 2022	Mendeliome v0.12039	SON	Zornitza Stark Publications for gene: SON were set to
27 Mar 2022	Mendeliome v0.12038	SON	Zornitza Stark Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12037	SON	Zornitza Stark reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12037	SNX3	Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12037	SNX3	Zornitza Stark Classified gene: SNX3 as Red List (low evidence)
27 Mar 2022	Mendeliome v0.12037	SNX3	Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
27 Mar 2022	Mendeliome v0.12036	SNX3	Zornitza Stark reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
27 Mar 2022	Mendeliome v0.12036	SMARCE1	Zornitza Stark Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938; {Meningioma, familial, susceptibility to} 607174
27 Mar 2022	Mendeliome v0.12035	SMARCE1	Zornitza Stark changed review comment from: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly. Accounts for ~2% of Coffin Siris syndrome.; to: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly. Accounts for ~2% of Coffin Siris syndrome. Germline LoF variants also linked to familial meningioma.
27 Mar 2022	Mendeliome v0.12035	SMARCE1	Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 23377182, 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Changed phenotypes: Coffin-Siris syndrome 5, MIM# 616938, {Meningioma, familial, susceptibility to} 607174
27 Mar 2022	Mendeliome v0.12035	SMARCE1	Zornitza Stark Publications for gene: SMARCE1 were set to 22426308; 23906836; 23929686; 32732226; 32436246; 32410215; 34205270
27 Mar 2022	Mendeliome v0.12034	SMARCE1	Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12034	SMARCE1	Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
27 Mar 2022	Mendeliome v0.12033	SMARCE1	Zornitza Stark Publications for gene: SMARCE1 were set to
27 Mar 2022	Mendeliome v0.12032	SMARCE1	Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12031	SMARCE1	Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12031	MAX	Zornitza Stark Gene: max has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12031	MAX	Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
27 Mar 2022	Mendeliome v0.12030	MAX	Zornitza Stark Publications for gene: MAX were set to
27 Mar 2022	Mendeliome v0.12029	MAX	Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12028	MAX	Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12028	MAT1A	Zornitza Stark Marked gene: MAT1A as ready
27 Mar 2022	Mendeliome v0.12028	MAT1A	Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12028	MAT1A	Zornitza Stark Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
27 Mar 2022	Mendeliome v0.12027	MAT1A	Zornitza Stark Publications for gene: MAT1A were set to
27 Mar 2022	Mendeliome v0.12026	MAT1A	Zornitza Stark Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12025	SNX14	Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12025	SNX14	Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
27 Mar 2022	Mendeliome v0.12024	SNX14	Zornitza Stark Publications for gene: SNX14 were set to
27 Mar 2022	Mendeliome v0.12023	SNX14	Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12022	SNX14	Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12022	SNORD118	Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12022	SNORD118	Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
27 Mar 2022	Mendeliome v0.12021	SNORD118	Zornitza Stark Publications for gene: SNORD118 were set to
27 Mar 2022	Mendeliome v0.12020	SNORD118	Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12019	SNORD118	Zornitza Stark reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12019	SNAP29	Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12019	SNAP29	Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528
27 Mar 2022	Mendeliome v0.12018	SNAP29	Zornitza Stark Publications for gene: SNAP29 were set to
27 Mar 2022	Mendeliome v0.12017	SNAP29	Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12016	SNAP29	Zornitza Stark reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12016	SNAP25	Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12016	SNAP25	Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330
27 Mar 2022	Mendeliome v0.12015	SNAP25	Zornitza Stark Publications for gene: SNAP25 were set to
27 Mar 2022	Mendeliome v0.12014	SNAP25	Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12013	SNAP25	Zornitza Stark reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2022	Mendeliome v0.12013	SNAI2	Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
27 Mar 2022	Mendeliome v0.12013	SNAI2	Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800
27 Mar 2022	Mendeliome v0.12012	SNAI2	Zornitza Stark Publications for gene: SNAI2 were set to
27 Mar 2022	Mendeliome v0.12011	SNAI2	Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12010	SNAI2	Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
27 Mar 2022	Mendeliome v0.12010	SNAI2	Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
27 Mar 2022	Mendeliome v0.12009	SNAI2	Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2022	Mendeliome v0.12009	SMS	Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
27 Mar 2022	Mendeliome v0.12009	SMS	Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
27 Mar 2022	Mendeliome v0.12008	SMS	Zornitza Stark Publications for gene: SMS were set to
27 Mar 2022	Mendeliome v0.12007	SMS	Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
27 Mar 2022	Mendeliome v0.12006	SMS	Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Mar 2022	Mendeliome v0.12006	GRIN1	Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
26 Mar 2022	Mendeliome v0.12005	GRIN1	Zornitza Stark edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
26 Mar 2022	Mendeliome v0.12005	RPS10	Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.12005	RPS10	Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
26 Mar 2022	Mendeliome v0.12004	RPS10	Zornitza Stark Publications for gene: RPS10 were set to
26 Mar 2022	Mendeliome v0.12003	RPS10	Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.12002	RPS10	Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.12002	ROBO3	Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.12002	ROBO3	Zornitza Stark Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)
26 Mar 2022	Mendeliome v0.12001	ROBO3	Zornitza Stark Publications for gene: ROBO3 were set to
26 Mar 2022	Mendeliome v0.12000	ROBO3	Zornitza Stark Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11999	ROBO2	Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11999	ROBO2	Zornitza Stark Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT
26 Mar 2022	Mendeliome v0.11998	ROBO2	Zornitza Stark Publications for gene: ROBO2 were set to
26 Mar 2022	Mendeliome v0.11997	ROBO2	Zornitza Stark Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11996	ROBO2	Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11996	RNF216	Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11996	RNF216	Zornitza Stark Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
26 Mar 2022	Mendeliome v0.11995	RNF216	Zornitza Stark Publications for gene: RNF216 were set to
26 Mar 2022	Mendeliome v0.11994	RNF216	Zornitza Stark Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11993	ATP2B2	Zornitza Stark Marked gene: ATP2B2 as ready
26 Mar 2022	Mendeliome v0.11993	ATP2B2	Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11993	ATP2B2	Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
26 Mar 2022	Mendeliome v0.11992	ATP2B2	Zornitza Stark Publications for gene: ATP2B2 were set to
26 Mar 2022	Mendeliome v0.11991	ATP2B2	Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
26 Mar 2022	Mendeliome v0.11991	TFAP2B	Zornitza Stark Marked gene: TFAP2B as ready
26 Mar 2022	Mendeliome v0.11991	TFAP2B	Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11991	TFAP2B	Zornitza Stark Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846
26 Mar 2022	Mendeliome v0.11990	TFAP2B	Zornitza Stark changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA. Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant).
26 Mar 2022	Mendeliome v0.11990	TFAP2B	Zornitza Stark edited their review of gene: TFAP2B: Changed publications: 31292255, 11505339, 15684060, 18752453, 21643846; Changed phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035, Syndromic craniosynostosis
26 Mar 2022	Mendeliome v0.11990	TFAP2B	Zornitza Stark Phenotypes for gene: TFAP2B were changed from Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035 to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035; Syndromic craniosynostosis
26 Mar 2022	Mendeliome v0.11989	TFAP2B	Zornitza Stark Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035
26 Mar 2022	Mendeliome v0.11988	TFAP2B	Zornitza Stark Publications for gene: TFAP2B were set to
26 Mar 2022	Mendeliome v0.11987	TFAP2B	Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11986	TFAP2B	Zornitza Stark reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11986	TERT	Zornitza Stark Marked gene: TERT as ready
26 Mar 2022	Mendeliome v0.11986	TERT	Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11986	TERT	Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
26 Mar 2022	Mendeliome v0.11985	TERT	Zornitza Stark Publications for gene: TERT were set to
26 Mar 2022	Mendeliome v0.11984	TERT	Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11983	TERT	Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11983	TERC	Zornitza Stark Marked gene: TERC as ready
26 Mar 2022	Mendeliome v0.11983	TERC	Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11983	TERC	Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
26 Mar 2022	Mendeliome v0.11982	TERC	Zornitza Stark Publications for gene: TERC were set to
26 Mar 2022	Mendeliome v0.11981	TERC	Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11980	TERC	Zornitza Stark reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574891; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11980	TEK	Zornitza Stark Marked gene: TEK as ready
26 Mar 2022	Mendeliome v0.11980	TEK	Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11980	TEK	Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272; Venous malformations, multiple cutaneous and mucosal, MIM# 600195
26 Mar 2022	Mendeliome v0.11979	TEK	Zornitza Stark Publications for gene: TEK were set to
26 Mar 2022	Mendeliome v0.11978	TEK	Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11977	TEK	Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174, 19888299; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272, Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11977	TEAD1	Zornitza Stark Marked gene: TEAD1 as ready
26 Mar 2022	Mendeliome v0.11977	TEAD1	Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
26 Mar 2022	Mendeliome v0.11977	TEAD1	Zornitza Stark Phenotypes for gene: TEAD1 were changed from to Sveinsson chorioretinal atrophy, MIM# 108985
26 Mar 2022	Mendeliome v0.11976	TEAD1	Zornitza Stark edited their review of gene: TEAD1: Changed rating: AMBER; Changed publications: 26091538, 15016762, 33864784, 17689488, 30903741
26 Mar 2022	Mendeliome v0.11976	TEAD1	Zornitza Stark Publications for gene: TEAD1 were set to
26 Mar 2022	Mendeliome v0.11975	TEAD1	Zornitza Stark changed review comment from: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family. Functional data supports gene-disease association.; to: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family. A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
26 Mar 2022	Mendeliome v0.11975	TEAD1	Zornitza Stark Classified gene: TEAD1 as Amber List (moderate evidence)
26 Mar 2022	Mendeliome v0.11975	TEAD1	Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
26 Mar 2022	Mendeliome v0.11974	TEAD1	Zornitza Stark Mode of inheritance for gene: TEAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11973	TEAD1	Zornitza Stark reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 33864784, 17689488, 30903741; Phenotypes: Sveinsson chorioretinal atrophy, MIM# 108985; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11973	TDP1	Zornitza Stark Tag founder tag was added to gene: TDP1.
26 Mar 2022	Mendeliome v0.11973	TDP1	Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
26 Mar 2022	Mendeliome v0.11972	TDP1	Zornitza Stark Publications for gene: TDP1 were set to
26 Mar 2022	Mendeliome v0.11971	TDP1	Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11970	TDP1	Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
26 Mar 2022	Mendeliome v0.11970	TDP1	Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
26 Mar 2022	Mendeliome v0.11969	TDP1	Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11969	TCIRG1	Zornitza Stark Marked gene: TCIRG1 as ready
26 Mar 2022	Mendeliome v0.11969	TCIRG1	Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11969	TCIRG1	Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
26 Mar 2022	Mendeliome v0.11968	TCIRG1	Zornitza Stark Publications for gene: TCIRG1 were set to
26 Mar 2022	Mendeliome v0.11967	TCIRG1	Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11966	TCIRG1	Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11966	TCF4	Zornitza Stark Marked gene: TCF4 as ready
26 Mar 2022	Mendeliome v0.11966	TCF4	Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11966	TCF4	Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
26 Mar 2022	Mendeliome v0.11965	TCF4	Zornitza Stark Publications for gene: TCF4 were set to
26 Mar 2022	Mendeliome v0.11964	TCF4	Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11963	TCF4	Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11963	TCAP	Zornitza Stark Marked gene: TCAP as ready
26 Mar 2022	Mendeliome v0.11963	TCAP	Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11963	TCAP	Zornitza Stark Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954
26 Mar 2022	Mendeliome v0.11962	TCAP	Zornitza Stark Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11961	TCAP	Zornitza Stark reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Mar 2022	Mendeliome v0.11961	TBX5	Zornitza Stark Marked gene: TBX5 as ready
26 Mar 2022	Mendeliome v0.11961	TBX5	Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11961	TBX5	Zornitza Stark Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900
26 Mar 2022	Mendeliome v0.11960	TBX5	Zornitza Stark Publications for gene: TBX5 were set to
26 Mar 2022	Mendeliome v0.11959	TBX5	Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11958	TBX20	Zornitza Stark Marked gene: TBX20 as ready
26 Mar 2022	Mendeliome v0.11958	TBX20	Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11958	TBX20	Zornitza Stark Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363
26 Mar 2022	Mendeliome v0.11957	TBX20	Zornitza Stark Publications for gene: TBX20 were set to
26 Mar 2022	Mendeliome v0.11956	TBX20	Zornitza Stark Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11955	TBX20	Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11955	TBL1XR1	Zornitza Stark Marked gene: TBL1XR1 as ready
26 Mar 2022	Mendeliome v0.11955	TBL1XR1	Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
26 Mar 2022	Mendeliome v0.11955	TBL1XR1	Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
26 Mar 2022	Mendeliome v0.11954	TBL1XR1	Zornitza Stark Publications for gene: TBL1XR1 were set to
26 Mar 2022	Mendeliome v0.11953	TBL1XR1	Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Mar 2022	Mendeliome v0.11952	TBL1XR1	Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11952	TBCK	Zornitza Stark Marked gene: TBCK as ready
25 Mar 2022	Mendeliome v0.11952	TBCK	Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11952	TBCK	Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
25 Mar 2022	Mendeliome v0.11951	TBCK	Zornitza Stark Publications for gene: TBCK were set to
25 Mar 2022	Mendeliome v0.11950	TBCK	Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11949	TBCK	Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11949	TBC1D23	Zornitza Stark Marked gene: TBC1D23 as ready
25 Mar 2022	Mendeliome v0.11949	TBC1D23	Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11949	TBC1D23	Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
25 Mar 2022	Mendeliome v0.11948	TBC1D23	Zornitza Stark Publications for gene: TBC1D23 were set to
25 Mar 2022	Mendeliome v0.11947	TBC1D23	Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11946	TBC1D1	Zornitza Stark Marked gene: TBC1D1 as ready
25 Mar 2022	Mendeliome v0.11946	TBC1D1	Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11946	TBC1D1	Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT; Non-syndromic renal or urinary tract malformation, MONDO:0019720
25 Mar 2022	Mendeliome v0.11945	TBC1D1	Zornitza Stark Publications for gene: TBC1D1 were set to
25 Mar 2022	Mendeliome v0.11944	TBC1D1	Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11943	TBC1D1	Zornitza Stark reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26572137; Phenotypes: CAKUT, Non-syndromic renal or urinary tract malformation, MONDO:0019720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11943	TAZ	Zornitza Stark Marked gene: TAZ as ready
25 Mar 2022	Mendeliome v0.11943	TAZ	Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11943	TAZ	Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
25 Mar 2022	Mendeliome v0.11942	TAZ	Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
25 Mar 2022	Mendeliome v0.11941	TAZ	Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
25 Mar 2022	Mendeliome v0.11941	TAT	Zornitza Stark Phenotypes for gene: TAT were changed from Tyrosinemia, type II, MIM# 276600 to Tyrosinaemia, type II, MIM# 276600
25 Mar 2022	Mendeliome v0.11940	TAT	Zornitza Stark Marked gene: TAT as ready
25 Mar 2022	Mendeliome v0.11940	TAT	Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11940	TAT	Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II, MIM# 276600
25 Mar 2022	Mendeliome v0.11939	TAT	Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11938	TAS2R38	Zornitza Stark Marked gene: TAS2R38 as ready
25 Mar 2022	Mendeliome v0.11938	TAS2R38	Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11938	TAS2R38	Zornitza Stark Phenotypes for gene: TAS2R38 were changed from to [Phenylthiocarbamide tasting] 171200
25 Mar 2022	Mendeliome v0.11937	TAS2R38	Zornitza Stark Mode of inheritance for gene: TAS2R38 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11936	TAS2R38	Zornitza Stark Classified gene: TAS2R38 as Red List (low evidence)
25 Mar 2022	Mendeliome v0.11936	TAS2R38	Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11935	TAS2R38	Zornitza Stark reviewed gene: TAS2R38: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Phenylthiocarbamide tasting] 171200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11935	TAS2R16	Zornitza Stark Marked gene: TAS2R16 as ready
25 Mar 2022	Mendeliome v0.11935	TAS2R16	Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11935	TAS2R16	Zornitza Stark Phenotypes for gene: TAS2R16 were changed from to [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956
25 Mar 2022	Mendeliome v0.11934	TAS2R16	Zornitza Stark Mode of inheritance for gene: TAS2R16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11933	TAS2R16	Zornitza Stark Classified gene: TAS2R16 as Red List (low evidence)
25 Mar 2022	Mendeliome v0.11933	TAS2R16	Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11932	TAS2R16	Zornitza Stark reviewed gene: TAS2R16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Mar 2022	Mendeliome v0.11932	TANGO2	Zornitza Stark Marked gene: TANGO2 as ready
25 Mar 2022	Mendeliome v0.11932	TANGO2	Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11932	TANGO2	Zornitza Stark Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
25 Mar 2022	Mendeliome v0.11931	TANGO2	Zornitza Stark Publications for gene: TANGO2 were set to
25 Mar 2022	Mendeliome v0.11930	TANGO2	Zornitza Stark Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11929	TANGO2	Zornitza Stark reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11929	TACR3	Zornitza Stark Marked gene: TACR3 as ready
25 Mar 2022	Mendeliome v0.11929	TACR3	Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11929	TACR3	Zornitza Stark Phenotypes for gene: TACR3 were changed from to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
25 Mar 2022	Mendeliome v0.11928	TACR3	Zornitza Stark Publications for gene: TACR3 were set to
25 Mar 2022	Mendeliome v0.11927	TACR3	Zornitza Stark Mode of inheritance for gene: TACR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11926	TACR3	Zornitza Stark reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20332248, 19079066; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11926	TAC3	Zornitza Stark Marked gene: TAC3 as ready
25 Mar 2022	Mendeliome v0.11926	TAC3	Zornitza Stark Gene: tac3 has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11926	TAC3	Zornitza Stark Phenotypes for gene: TAC3 were changed from to Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839
25 Mar 2022	Mendeliome v0.11925	TAC3	Zornitza Stark Publications for gene: TAC3 were set to
25 Mar 2022	Mendeliome v0.11924	TAC3	Zornitza Stark Mode of inheritance for gene: TAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11923	TAC3	Zornitza Stark reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11923	T	Zornitza Stark Marked gene: T as ready
25 Mar 2022	Mendeliome v0.11923	T	Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11923	T	Zornitza Stark Phenotypes for gene: T were changed from to Sacral agenesis with vertebral anomalies, MIM# 615709
25 Mar 2022	Mendeliome v0.11922	T	Zornitza Stark Publications for gene: T were set to
25 Mar 2022	Mendeliome v0.11921	T	Zornitza Stark Mode of inheritance for gene: T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11920	T	Zornitza Stark Classified gene: T as Red List (low evidence)
25 Mar 2022	Mendeliome v0.11920	T	Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
25 Mar 2022	Mendeliome v0.11919	T	Zornitza Stark reviewed gene: T: Rating: RED; Mode of pathogenicity: None; Publications: 24253444, 28116192; Phenotypes: Sacral agenesis with vertebral anomalies 615709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11919	LAT	Zornitza Stark Publications for gene: LAT were set to
25 Mar 2022	Mendeliome v0.11918	TCF20	Zornitza Stark Publications for gene: TCF20 were set to 30739909; 30819258; 25228304
25 Mar 2022	Mendeliome v0.11917	LAS1L	Zornitza Stark Publications for gene: LAS1L were set to 25644381; 34653234; 26358559
25 Mar 2022	Mendeliome v0.11916	LAS1L	Zornitza Stark edited their review of gene: LAS1L: Changed rating: GREEN; Changed phenotypes: Wilson-Turner syndrome, MIM# 309585, congenital lethal motor neuron disease
25 Mar 2022	Mendeliome v0.11916	LARGE1	Zornitza Stark Publications for gene: LARGE1 were set to
25 Mar 2022	Mendeliome v0.11915	LARGE1	Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11914	LAMC3	Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
25 Mar 2022	Mendeliome v0.11913	LAMC3	Zornitza Stark Publications for gene: LAMC3 were set to
25 Mar 2022	Mendeliome v0.11912	LAMC3	Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11911	LBR	Alison Yeung Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140
25 Mar 2022	Mendeliome v0.11910	LBR	Alison Yeung Gene: lbr has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11910	LBR	Alison Yeung Publications for gene: LBR were set to
25 Mar 2022	Mendeliome v0.11909	LBR	Alison Yeung Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
25 Mar 2022	Mendeliome v0.11908	LAT	Alison Yeung Marked gene: LAT as ready
25 Mar 2022	Mendeliome v0.11908	LAT	Alison Yeung Gene: lat has been classified as Green List (High Evidence).
25 Mar 2022	Mendeliome v0.11908	LAT	Alison Yeung Mode of inheritance for gene: LAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2022	Mendeliome v0.11907	LAT	Alison Yeung Phenotypes for gene: LAT were changed from to Immunodeficiency 52, MIM# 617514
24 Mar 2022	Mendeliome v0.11906	LAT	Alison Yeung reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
24 Mar 2022	Mendeliome v0.11906	LAMB2	Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
24 Mar 2022	Mendeliome v0.11905	LAMB2	Zornitza Stark Publications for gene: LAMB2 were set to
24 Mar 2022	Mendeliome v0.11904	LAMB2	Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2022	Mendeliome v0.11903	L1CAM	Zornitza Stark Phenotypes for gene: L1CAM were changed from Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140; Corpus callosum, partial agenesis of, MIM# 304100
24 Mar 2022	Mendeliome v0.11902	L1CAM	Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, Corpus callosum, partial agenesis of, MIM# 304100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
24 Mar 2022	Mendeliome v0.11902	L1CAM	Zornitza Stark Publications for gene: L1CAM were set to
24 Mar 2022	Mendeliome v0.11901	L1CAM	Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
24 Mar 2022	Mendeliome v0.11900	NPRL3	Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11900	NPRL3	Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
24 Mar 2022	Mendeliome v0.11899	NPRL3	Zornitza Stark Publications for gene: NPRL3 were set to
24 Mar 2022	Mendeliome v0.11898	NPRL3	Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11897	NPPC	Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
24 Mar 2022	Mendeliome v0.11897	NPPC	Zornitza Stark Phenotypes for gene: NPPC were changed from to short stature and non-specific skeletal anomalies - MONDO#0014551
24 Mar 2022	Mendeliome v0.11896	NPPC	Zornitza Stark Publications for gene: NPPC were set to
24 Mar 2022	Mendeliome v0.11895	NPPC	Zornitza Stark Mode of inheritance for gene: NPPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11894	NPPC	Zornitza Stark Classified gene: NPPC as Red List (low evidence)
24 Mar 2022	Mendeliome v0.11894	NPPC	Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
24 Mar 2022	Mendeliome v0.11893	NOTCH2	Zornitza Stark Marked gene: NOTCH2 as ready
24 Mar 2022	Mendeliome v0.11893	NOTCH2	Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11893	NOTCH2	Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
24 Mar 2022	Mendeliome v0.11892	NOTCH2	Zornitza Stark Publications for gene: NOTCH2 were set to
24 Mar 2022	Mendeliome v0.11891	NOTCH2	Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11890	NOTCH1	Zornitza Stark Marked gene: NOTCH1 as ready
24 Mar 2022	Mendeliome v0.11890	NOTCH1	Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11890	NOTCH1	Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
24 Mar 2022	Mendeliome v0.11889	NOTCH1	Zornitza Stark Publications for gene: NOTCH1 were set to
24 Mar 2022	Mendeliome v0.11888	NOTCH1	Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11887	NONO	Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11887	NONO	Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
24 Mar 2022	Mendeliome v0.11886	NONO	Zornitza Stark Publications for gene: NONO were set to
24 Mar 2022	Mendeliome v0.11885	NONO	Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
24 Mar 2022	Mendeliome v0.11884	NOL3	Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
24 Mar 2022	Mendeliome v0.11884	NOL3	Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 MIM#614937
24 Mar 2022	Mendeliome v0.11883	NOL3	Zornitza Stark Publications for gene: NOL3 were set to
24 Mar 2022	Mendeliome v0.11882	NOL3	Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11881	NOL3	Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
24 Mar 2022	Mendeliome v0.11881	NOL3	Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
24 Mar 2022	Mendeliome v0.11880	NOG	Zornitza Stark Gene: nog has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11880	NOG	Zornitza Stark Phenotypes for gene: NOG were changed from to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
24 Mar 2022	Mendeliome v0.11879	NOG	Zornitza Stark Publications for gene: NOG were set to
24 Mar 2022	Mendeliome v0.11878	NOG	Zornitza Stark Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11877	NNT	Zornitza Stark Marked gene: NNT as ready
24 Mar 2022	Mendeliome v0.11877	NNT	Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11877	NNT	Zornitza Stark Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
24 Mar 2022	Mendeliome v0.11876	NNT	Zornitza Stark Publications for gene: NNT were set to
24 Mar 2022	Mendeliome v0.11875	NNT	Zornitza Stark Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2022	Mendeliome v0.11874	NLRP7	Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11874	NLRP7	Zornitza Stark Phenotypes for gene: NLRP7 were changed from to Hydatidiform mole, recurrent, 1 - MIM#231090
24 Mar 2022	Mendeliome v0.11873	NLRP7	Zornitza Stark Publications for gene: NLRP7 were set to
24 Mar 2022	Mendeliome v0.11872	NLRP7	Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2022	Mendeliome v0.11871	NLRP12	Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11871	NLRP12	Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
24 Mar 2022	Mendeliome v0.11870	NLRP12	Zornitza Stark Publications for gene: NLRP12 were set to
24 Mar 2022	Mendeliome v0.11869	NLRP12	Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Mar 2022	Mendeliome v0.11868	TCF20	Elena Savva reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34904221, 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Mar 2022	Mendeliome v0.11868	LAS1L	Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11868	LAS1L	Alison Yeung Publications for gene: LAS1L were set to
24 Mar 2022	Mendeliome v0.11867	LAS1L	Alison Yeung Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
24 Mar 2022	Mendeliome v0.11866	LAS1L	Alison Yeung Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
24 Mar 2022	Mendeliome v0.11865	LAS1L	Alison Yeung edited their review of gene: LAS1L: Changed publications: 25644381, 34653234, 26358559
24 Mar 2022	Mendeliome v0.11865	LAS1L	Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
24 Mar 2022	Mendeliome v0.11865	LAS1L	Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
24 Mar 2022	Mendeliome v0.11865	LAS1L	Alison Yeung reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 34653234, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
24 Mar 2022	Mendeliome v0.11865	LARGE1	Alison Yeung Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840
24 Mar 2022	Mendeliome v0.11864	LARGE1	Alison Yeung Gene: large1 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11864	LARGE1	Alison Yeung reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12966029, 19067344, 17436019, 21248746; Phenotypes: Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154, Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
24 Mar 2022	Mendeliome v0.11864	LAMC3	Alison Yeung Gene: lamc3 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11864	LAMC3	Alison Yeung reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
24 Mar 2022	Mendeliome v0.11864	LAMB2	Alison Yeung Gene: lamb2 has been classified as Green List (High Evidence).
24 Mar 2022	Mendeliome v0.11864	LAMB2	Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss. Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. The two disorders are likely part of a spectrum. More than 5 unrelated families reported. ; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss. Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. More than 5 unrelated families reported.
24 Mar 2022	Mendeliome v0.11864	LAMB2	Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss. Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss. Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. The two disorders are likely part of a spectrum. More than 5 unrelated families reported.
24 Mar 2022	Mendeliome v0.11864	LAMB2	Alison Yeung reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11864	L1CAM	Alison Yeung Gene: l1cam has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11864	L1CAM	Alison Yeung Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
23 Mar 2022	Mendeliome v0.11863	L1CAM	Alison Yeung reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
23 Mar 2022	Mendeliome v0.11863	TRIM63	Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
23 Mar 2022	Mendeliome v0.11862	TRIM63	Zornitza Stark edited their review of gene: TRIM63: Changed rating: GREEN; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11862	MYOM1	Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
23 Mar 2022	Mendeliome v0.11861	MYOM1	Zornitza Stark Classified gene: MYOM1 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11861	MYOM1	Zornitza Stark Gene: myom1 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11860	MYOM1	Zornitza Stark edited their review of gene: MYOM1: Changed rating: RED; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045
23 Mar 2022	Mendeliome v0.11860	NPRL3	Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	NPPC	Krithika Murali reviewed gene: NPPC: Rating: RED; Mode of pathogenicity: None; Publications: 28661490, 32528716; Phenotypes: short stature and non-specific skeletal anomalies - MONDO#0014551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	NOTCH2	Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	NOTCH1	Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	NONO	Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Mar 2022	Mendeliome v0.11860	NOL3	Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Mar 2022	Mendeliome v0.11860	NOG	Krithika Murali reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	NNT	Krithika Murali reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11860	NLRP7	Krithika Murali reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23201303, 23125094, 25097207, 26606510, 19650864, 23880596, 22770628, 26544189, 28428943, 21623199, 21439709, 33583041, 32055942, 19246479, 19066229, 34189227; Phenotypes: Hydatidiform mole, recurrent, 1 - MIM#231090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11860	NLRP12	Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11860	STAG1	Zornitza Stark Marked gene: STAG1 as ready
23 Mar 2022	Mendeliome v0.11860	STAG1	Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11860	STAG1	Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
23 Mar 2022	Mendeliome v0.11859	STAG1	Zornitza Stark Publications for gene: STAG1 were set to
23 Mar 2022	Mendeliome v0.11858	STAG1	Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11857	STAG1	Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11857	STAR	Zornitza Stark Marked gene: STAR as ready
23 Mar 2022	Mendeliome v0.11857	STAR	Zornitza Stark Gene: star has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11857	STAR	Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
23 Mar 2022	Mendeliome v0.11856	STAR	Zornitza Stark Publications for gene: STAR were set to
23 Mar 2022	Mendeliome v0.11855	STAR	Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11854	STAR	Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11854	STAT1	Zornitza Stark Marked gene: STAT1 as ready
23 Mar 2022	Mendeliome v0.11854	STAT1	Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11854	STAT1	Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162
23 Mar 2022	Mendeliome v0.11853	STAT1	Zornitza Stark Publications for gene: STAT1 were set to
23 Mar 2022	Mendeliome v0.11852	STAT1	Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11851	STAT1	Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16934001, 22573496, 26513235, 12590259, 16585605, 20841510, 21714643, 21727188; Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796, Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11851	STAT2	Zornitza Stark Marked gene: STAT2 as ready
23 Mar 2022	Mendeliome v0.11851	STAT2	Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11851	STAT2	Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636; Pseudo-TORCH syndrome 3, MIM# 618886
23 Mar 2022	Mendeliome v0.11850	STAT2	Zornitza Stark Publications for gene: STAT2 were set to
23 Mar 2022	Mendeliome v0.11849	STAT2	Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11848	STAT2	Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121, 31836668, 32092142; Phenotypes: Immunodeficiency 44, MIM# 616636, Pseudo-TORCH syndrome 3, MIM# 618886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11848	STS	Zornitza Stark Marked gene: STS as ready
23 Mar 2022	Mendeliome v0.11848	STS	Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11848	STS	Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked 308100; Sterol metabolism disorder
23 Mar 2022	Mendeliome v0.11847	STS	Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Mar 2022	Mendeliome v0.11846	STS	Zornitza Stark Tag SV/CNV tag was added to gene: STS.
23 Mar 2022	Mendeliome v0.11846	STUB1	Zornitza Stark Marked gene: STUB1 as ready
23 Mar 2022	Mendeliome v0.11846	STUB1	Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11846	STUB1	Zornitza Stark Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093
23 Mar 2022	Mendeliome v0.11845	STUB1	Zornitza Stark Publications for gene: STUB1 were set to
23 Mar 2022	Mendeliome v0.11844	STUB1	Zornitza Stark Mode of inheritance for gene: STUB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11843	STUB1	Zornitza Stark changed review comment from: Onset is typically in adolescence but onset in childhood also reported. Sources: Expert list; to: Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset. Sources: Expert list
23 Mar 2022	Mendeliome v0.11843	STUB1	Zornitza Stark edited their review of gene: STUB1: Changed publications: 25258038, 24742043, 32337344, 30381368, 31126790; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768, Spinocerebellar ataxia 48, MIM#618093; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11843	STX11	Zornitza Stark Marked gene: STX11 as ready
23 Mar 2022	Mendeliome v0.11843	STX11	Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11843	STX11	Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
23 Mar 2022	Mendeliome v0.11842	STX11	Zornitza Stark Publications for gene: STX11 were set to
23 Mar 2022	Mendeliome v0.11841	STX11	Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11840	STX11	Zornitza Stark edited their review of gene: STX11: Changed phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
23 Mar 2022	Mendeliome v0.11840	STX11	Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11840	NLRC4	Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11840	NLRC4	Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
23 Mar 2022	Mendeliome v0.11839	NLRC4	Zornitza Stark Publications for gene: NLRC4 were set to
23 Mar 2022	Mendeliome v0.11838	NLRC4	Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11837	NLGN3	Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Mar 2022	Mendeliome v0.11836	NLGN3	Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11836	NLGN3	Zornitza Stark Publications for gene: NLGN3 were set to
23 Mar 2022	Mendeliome v0.11835	NLGN3	Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
23 Mar 2022	Mendeliome v0.11834	NLRC4	Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11834	NKX3-2	Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11834	NKX3-2	Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330
23 Mar 2022	Mendeliome v0.11833	NKX3-2	Zornitza Stark Publications for gene: NKX3-2 were set to
23 Mar 2022	Mendeliome v0.11832	NKX3-2	Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11831	NIPAL4	Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11831	NIPAL4	Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6 - MIM#612281
23 Mar 2022	Mendeliome v0.11830	NIPAL4	Zornitza Stark Publications for gene: NIPAL4 were set to
23 Mar 2022	Mendeliome v0.11829	NIPAL4	Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11828	NHS	Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11828	NHS	Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
23 Mar 2022	Mendeliome v0.11827	NHS	Zornitza Stark Publications for gene: NHS were set to
23 Mar 2022	Mendeliome v0.11826	NHS	Zornitza Stark Mode of inheritance for gene: NHS 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)
23 Mar 2022	Mendeliome v0.11825	NFKBIL1	Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11825	NFKBIL1	Zornitza Stark Phenotypes for gene: NFKBIL1 were changed from to {Rheumatoid arthritis, susceptibility to} - MIM#180300
23 Mar 2022	Mendeliome v0.11824	NFKBIL1	Zornitza Stark Classified gene: NFKBIL1 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11824	NFKBIL1	Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11823	NFIA	Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11823	NFIA	Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
23 Mar 2022	Mendeliome v0.11822	NFIA	Zornitza Stark Publications for gene: NFIA were set to
23 Mar 2022	Mendeliome v0.11821	NFIA	Zornitza Stark Mode of inheritance for gene: NFIA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11820	NFIA	Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11819	NEXN	Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11819	NEXN	Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
23 Mar 2022	Mendeliome v0.11818	NEXN	Zornitza Stark Publications for gene: NEXN were set to
23 Mar 2022	Mendeliome v0.11817	NEXN	Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11816	STX1B	Zornitza Stark edited their review of gene: STX1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11816	STX1B	Zornitza Stark Marked gene: STX1B as ready
23 Mar 2022	Mendeliome v0.11816	STX1B	Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11816	STX1B	Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
23 Mar 2022	Mendeliome v0.11815	STX1B	Zornitza Stark Publications for gene: STX1B were set to
23 Mar 2022	Mendeliome v0.11814	STX1B	Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11813	STX1B	Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: None
23 Mar 2022	Mendeliome v0.11813	STX2	Zornitza Stark Marked gene: STX2 as ready
23 Mar 2022	Mendeliome v0.11813	STX2	Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11813	STX2	Zornitza Stark Classified gene: STX2 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11813	STX2	Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11812	STX2	Zornitza Stark reviewed gene: STX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Marked gene: STX4 as ready
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Classified gene: STX4 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11811	STX4	Zornitza Stark reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Mar 2022	Mendeliome v0.11811	STXBP2	Zornitza Stark Marked gene: STXBP2 as ready
23 Mar 2022	Mendeliome v0.11811	STXBP2	Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11811	STXBP2	Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
23 Mar 2022	Mendeliome v0.11810	STXBP2	Zornitza Stark Publications for gene: STXBP2 were set to
23 Mar 2022	Mendeliome v0.11809	STXBP2	Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11808	STXBP2	Zornitza Stark reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11808	SULT2B1	Zornitza Stark Marked gene: SULT2B1 as ready
23 Mar 2022	Mendeliome v0.11808	SULT2B1	Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11808	SULT2B1	Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14, MIM# 617571
23 Mar 2022	Mendeliome v0.11807	SULT2B1	Zornitza Stark Publications for gene: SULT2B1 were set to
23 Mar 2022	Mendeliome v0.11806	SULT2B1	Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11805	SULT2B1	Zornitza Stark reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14, MIM# 617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11805	SUMF1	Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11805	SUMF1	Zornitza Stark Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)
23 Mar 2022	Mendeliome v0.11804	SUMF1	Zornitza Stark Publications for gene: SUMF1 were set to
23 Mar 2022	Mendeliome v0.11803	SUMF1	Zornitza Stark Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11802	SUMF1	Zornitza Stark reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17360554, 25885655, 28566233; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11802	SUMO4	Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11802	SUMO4	Zornitza Stark Phenotypes for gene: SUMO4 were changed from to {Diabetes mellitus, insulin-dependent, 5} 600320
23 Mar 2022	Mendeliome v0.11801	SUMO4	Zornitza Stark Publications for gene: SUMO4 were set to
23 Mar 2022	Mendeliome v0.11800	SUMO4	Zornitza Stark Mode of inheritance for gene: SUMO4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11799	SUMO4	Zornitza Stark Classified gene: SUMO4 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11799	SUMO4	Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11798	SUMO4	Zornitza Stark reviewed gene: SUMO4: Rating: RED; Mode of pathogenicity: None; Publications: 15123604; Phenotypes: {Diabetes mellitus, insulin-dependent, 5} 600320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Mar 2022	Mendeliome v0.11798	SURF1	Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
23 Mar 2022	Mendeliome v0.11798	SURF1	Zornitza Stark Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
23 Mar 2022	Mendeliome v0.11797	SURF1	Zornitza Stark Publications for gene: SURF1 were set to

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