PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Mendeliome v0.6990 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Mendeliome v0.6990 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Mendeliome v0.6990 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Mendeliome v0.6989 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to
Mendeliome v0.6988 TRMT10A Zornitza Stark Mode of inheritance for gene: TRMT10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6987 TRMT10A Zornitza Stark reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033, MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6987 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Mendeliome v0.6987 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Mendeliome v0.6987 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777
Mendeliome v0.6986 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Mendeliome v0.6985 TRAIP Zornitza Stark Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6984 TRAIP Zornitza Stark reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6984 TOP3A Zornitza Stark Publications for gene: TOP3A were set to 30057030; 33631320
Mendeliome v0.6983 TOP3A Zornitza Stark edited their review of gene: TOP3A: Changed publications: 30057030, 33631320, 29290614
Mendeliome v0.6983 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Mendeliome v0.6983 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Mendeliome v0.6983 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Mendeliome v0.6982 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Mendeliome v0.6981 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6980 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6980 STIL Zornitza Stark Marked gene: STIL as ready
Mendeliome v0.6980 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Mendeliome v0.6980 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989
Mendeliome v0.6979 STIL Zornitza Stark Publications for gene: STIL were set to
Mendeliome v0.6978 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6977 STIL Zornitza Stark reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6977 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Mendeliome v0.6976 RAD50 Zornitza Stark Publications for gene: RAD50 were set to 19409520; 32212377
Mendeliome v0.6975 RAD50 Arina Puzriakova reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6975 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Mendeliome v0.6975 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Mendeliome v0.6975 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659
Mendeliome v0.6974 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Mendeliome v0.6973 STAMBP Zornitza Stark Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6972 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6972 PCNT Zornitza Stark Marked gene: PCNT as ready
Mendeliome v0.6972 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Mendeliome v0.6972 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Mendeliome v0.6971 PCNT Zornitza Stark Publications for gene: PCNT were set to
Mendeliome v0.6970 PCNT Zornitza Stark Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6969 PCNT Zornitza Stark reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6969 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Mendeliome v0.6969 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Mendeliome v0.6969 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650
Mendeliome v0.6968 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Mendeliome v0.6967 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6966 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6966 NBN Zornitza Stark Marked gene: NBN as ready
Mendeliome v0.6966 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Mendeliome v0.6966 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Mendeliome v0.6965 NBN Zornitza Stark Publications for gene: NBN were set to
Mendeliome v0.6964 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6963 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6963 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Mendeliome v0.6963 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Mendeliome v0.6963 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793; Disorders of the metabolism of sterols
Mendeliome v0.6962 MSMO1 Zornitza Stark Publications for gene: MSMO1 were set to
Mendeliome v0.6961 MSMO1 Zornitza Stark Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6960 MSMO1 Zornitza Stark reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21285510, 24144731, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834, MONDO:0014793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6960 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Mendeliome v0.6960 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Mendeliome v0.6960 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Mendeliome v0.6959 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Mendeliome v0.6958 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6957 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6957 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Mendeliome v0.6957 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Mendeliome v0.6957 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria
Mendeliome v0.6956 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Mendeliome v0.6955 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6954 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074, 33762331; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235, Polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6954 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Mendeliome v0.6953 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Mendeliome v0.6953 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Mendeliome v0.6953 LARP7 Zornitza Stark Phenotypes for gene: LARP7 were changed from to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Mendeliome v0.6952 LARP7 Zornitza Stark Publications for gene: LARP7 were set to
Mendeliome v0.6951 LARP7 Zornitza Stark Mode of inheritance for gene: LARP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6950 LARP7 Zornitza Stark reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879; Phenotypes: Alazami syndrome, MIM# 615071, Microcephalic primordial dwarfism, Alazami type MONDO:0014031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6950 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Mendeliome v0.6950 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Mendeliome v0.6950 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Mendeliome v0.6949 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Mendeliome v0.6948 KNL1 Zornitza Stark Mode of inheritance for gene: KNL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6947 KNL1 Zornitza Stark reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22983954, 26626498, 27149178, 30304678, 27784895; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6947 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6946 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6946 BAAT Zornitza Stark Marked gene: BAAT as ready
Mendeliome v0.6946 BAAT Zornitza Stark Gene: baat has been classified as Green List (High Evidence).
Mendeliome v0.6946 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from to Bile acid conjugation defect 1, MIM# 619232
Mendeliome v0.6945 BAAT Zornitza Stark Publications for gene: BAAT were set to
Mendeliome v0.6944 BAAT Zornitza Stark Mode of inheritance for gene: BAAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6943 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12704386, 23415802; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6943 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Mendeliome v0.6943 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Mendeliome v0.6943 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Mendeliome v0.6942 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Mendeliome v0.6941 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6940 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6940 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Mendeliome v0.6940 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Mendeliome v0.6940 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Mendeliome v0.6939 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Mendeliome v0.6938 IER3IP1 Zornitza Stark Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6937 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6937 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Mendeliome v0.6937 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Mendeliome v0.6937 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Mendeliome v0.6936 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Mendeliome v0.6935 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6934 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6934 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Mendeliome v0.6934 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Mendeliome v0.6934 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Mendeliome v0.6933 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Mendeliome v0.6932 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6931 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6931 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Mendeliome v0.6931 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Mendeliome v0.6931 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Mendeliome v0.6930 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Mendeliome v0.6929 GNPAT Zornitza Stark Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6928 GNPAT Zornitza Stark reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6928 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures to Pseudohypoaldosteronism, type IIE 614496; Neurodevelopmental disorder with or without autism or seizures, MIM# 619239
Mendeliome v0.6927 CUL3 Zornitza Stark edited their review of gene: CUL3: Changed phenotypes: Pseudohypoaldosteronism, type IIE 614496, Neurodevelopmental disorder with or without autism or seizures 619239
Mendeliome v0.6927 CD4 Zornitza Stark Marked gene: CD4 as ready
Mendeliome v0.6927 CD4 Zornitza Stark Gene: cd4 has been classified as Green List (High Evidence).
Mendeliome v0.6927 CD4 Zornitza Stark Phenotypes for gene: CD4 were changed from to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Mendeliome v0.6926 CD4 Zornitza Stark Publications for gene: CD4 were set to
Mendeliome v0.6925 CD4 Zornitza Stark Mode of inheritance for gene: CD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6924 CD4 Zornitza Stark changed review comment from: Single individual reported, functional data, emerging gene.; to: Two individuals reported, functional data.
Mendeliome v0.6924 CD4 Zornitza Stark edited their review of gene: CD4: Changed rating: GREEN; Changed publications: 31781092, 33471124; Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts
Mendeliome v0.6924 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Mendeliome v0.6924 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Mendeliome v0.6924 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Mendeliome v0.6923 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Mendeliome v0.6922 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6921 TMEM231 Zornitza Stark changed review comment from: Two families described with the Joubert phenotype, severely affected, not ambulant.; to: More than 3 unrelated families reported with each phenotype, functional data.
Mendeliome v0.6921 TMEM231 Zornitza Stark edited their review of gene: TMEM231: Changed rating: GREEN; Changed publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Changed phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164
Mendeliome v0.6921 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Mendeliome v0.6921 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Mendeliome v0.6921 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Mendeliome v0.6920 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Mendeliome v0.6919 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6918 TMEM216 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.; to: p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome.
Mendeliome v0.6918 TMEM216 Zornitza Stark edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296
Mendeliome v0.6918 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Mendeliome v0.6918 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Mendeliome v0.6918 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Mendeliome v0.6917 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Mendeliome v0.6916 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6915 TMEM138 Zornitza Stark changed review comment from: Ataxia not specifically reported in association with this gene.; to: At least 5 unrelated families reported.
Mendeliome v0.6915 TMEM138 Zornitza Stark edited their review of gene: TMEM138: Changed rating: GREEN; Changed publications: 22282472, 28102635, 27434533; Changed phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764
Mendeliome v0.6915 TCTN2 Zornitza Stark changed review comment from: Multiple families reported, ataxia is part of the phenotype.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.
Mendeliome v0.6915 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Mendeliome v0.6915 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Mendeliome v0.6915 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Mendeliome v0.6914 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Mendeliome v0.6913 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6912 TCTN2 Zornitza Stark edited their review of gene: TCTN2: Changed publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Changed phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482
Mendeliome v0.6912 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Mendeliome v0.6912 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Mendeliome v0.6912 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Mendeliome v0.6911 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Mendeliome v0.6910 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6909 TCTN1 Zornitza Stark changed review comment from: Rare cause of JBS, ataxia specifically mentioned in at least one individual.; to: Rare cause of JBS, at least 4 families reported, mouse model.
Mendeliome v0.6909 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608
Mendeliome v0.6909 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to 31600781
Mendeliome v0.6908 SMCHD1 Zornitza Stark edited their review of gene: SMCHD1: Added comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Caused by gain of function missense variants with the extended ATPase domain.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 28067909; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6908 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic to Bosma arhinia microphthalmia syndrome, MIM 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.6907 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from to Other
Mendeliome v0.6906 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Mendeliome v0.6906 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Mendeliome v0.6906 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Mendeliome v0.6905 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Mendeliome v0.6904 TXNL4A Zornitza Stark Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6903 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Mendeliome v0.6903 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6903 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhoea 3, secretory sodium, congenital, syndromic 270420 to Diarrhoea 3, secretory sodium, congenital, syndromic 270420; MONDO:0010036
Mendeliome v0.6902 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to 24142340; 30445423
Mendeliome v0.6901 SPINT2 Zornitza Stark Tag founder tag was added to gene: SPINT2.
Mendeliome v0.6901 SPINT2 Zornitza Stark changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.
Mendeliome v0.6901 SPINT2 Zornitza Stark edited their review of gene: SPINT2: Changed publications: 19185281, 20009592, 24142340, 30445423; Changed phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420, MONDO:0010036
Mendeliome v0.6901 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Mendeliome v0.6901 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Mendeliome v0.6901 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Mendeliome v0.6900 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Mendeliome v0.6899 FOXE1 Zornitza Stark Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6898 FOXE1 Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6898 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Mendeliome v0.6898 MIB1 Zornitza Stark Added comment: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.
Mendeliome v0.6898 MIB1 Zornitza Stark Gene: mib1 has been classified as Green List (High Evidence).
Mendeliome v0.6898 MIB1 Zornitza Stark Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 MIM#615092 to Left ventricular noncompaction 7 MIM#615092; cardiomyopathy; congenital heart disease
Mendeliome v0.6897 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850, 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6897 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Mendeliome v0.6897 ANO3 Zornitza Stark Gene: ano3 has been classified as Green List (High Evidence).
Mendeliome v0.6897 ANO3 Zornitza Stark Phenotypes for gene: ANO3 were changed from to Dystonia 24, MIM#615034; familial form of cranio-cervical dystonia
Mendeliome v0.6896 ANO3 Zornitza Stark Publications for gene: ANO3 were set to
Mendeliome v0.6895 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6894 ANO3 Zornitza Stark reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33388357; Phenotypes: Dystonia 24, MIM#615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6894 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Mendeliome v0.6894 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6894 IPO8 Zornitza Stark Classified gene: IPO8 as Amber List (moderate evidence)
Mendeliome v0.6894 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6893 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to AMBER
Added comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Expert Review
Mendeliome v0.6892 DDB1 Zornitza Stark Publications for gene: DDB1 were set to
Mendeliome v0.6891 DDB1 Zornitza Stark Deleted their comment
Mendeliome v0.6891 DDB1 Zornitza Stark edited their review of gene: DDB1: Added comment: 8 individuals with de novo missense variants and varying degrees of intellectual disability, hypotonia, and some malformations, brachydactyly and syndactyly. Functional evidence of abnormal DNA repair in patient lymphoblasts.; Changed publications: 33743206
Mendeliome v0.6891 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Mendeliome v0.6891 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Mendeliome v0.6891 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821
Mendeliome v0.6890 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Mendeliome v0.6889 FAM20C Zornitza Stark Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6888 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6888 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection; POLR3A-related spastic ataxia
Mendeliome v0.6887 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Mendeliome v0.6886 POLR3A Zornitza Stark Tag deep intronic tag was added to gene: POLR3A.
Mendeliome v0.6886 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Mendeliome v0.6886 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Mendeliome v0.6886 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Mendeliome v0.6885 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Mendeliome v0.6884 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6883 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6883 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Mendeliome v0.6882 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285; 23559409
Mendeliome v0.6881 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Mendeliome v0.6881 CLDN2 Zornitza Stark Phenotypes for gene: CLDN2 were changed from Susceptibility to pancreatitis to Susceptibility to pancreatitis; Azoospermia, obstructive, with nephrolithiasis, MIM# 301060
Mendeliome v0.6880 CLDN2 Zornitza Stark Publications for gene: CLDN2 were set to 29884332; 31163246
Mendeliome v0.6879 CLDN2 Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6878 CLDN2 Zornitza Stark changed review comment from: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.; to: Pancreatitis: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.
Mendeliome v0.6878 CLDN2 Zornitza Stark edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6878 FLII Zornitza Stark changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: aware of two more families.
Sources: Literature
Mendeliome v0.6878 FLII Zornitza Stark edited their review of gene: FLII: Changed rating: GREEN
Mendeliome v0.6878 FLII Zornitza Stark Publications for gene: FLII were set to 32870709
Mendeliome v0.6877 FLII Zornitza Stark Classified gene: FLII as Green List (high evidence)
Mendeliome v0.6877 FLII Zornitza Stark Gene: flii has been classified as Green List (High Evidence).
Mendeliome v0.6876 POLR3A Elena Savva commented on gene: POLR3A: c.1909+22G>A is a recurring variant that results in a leaky splice site

Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.

Deep intronic variants commonly pathogenic

No clear gen-phen correlation
Mendeliome v0.6876 POLR3A Elena Savva reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31637490; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694, Wiedemann-Rautenstrauch syndrome MIM#264090, POLR3A-related spastic ataxia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6876 FLII Elena Savva reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6876 HSF2BP Zornitza Stark Marked gene: HSF2BP as ready
Mendeliome v0.6876 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Red List (Low Evidence).
Mendeliome v0.6876 HSF2BP Zornitza Stark gene: HSF2BP was added
gene: HSF2BP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSF2BP were set to 32845237
Phenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245
Review for gene: HSF2BP was set to RED
Added comment: Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Expert list
Mendeliome v0.6875 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Mendeliome v0.6875 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Mendeliome v0.6875 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6 MIM#300914
Mendeliome v0.6874 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to
Mendeliome v0.6873 COL4A6 Zornitza Stark Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6872 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Mendeliome v0.6872 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Mendeliome v0.6871 RNF6 Zornitza Stark Marked gene: RNF6 as ready
Mendeliome v0.6871 RNF6 Zornitza Stark Gene: rnf6 has been classified as Red List (Low Evidence).
Mendeliome v0.6871 RNF6 Zornitza Stark Classified gene: RNF6 as Red List (low evidence)
Mendeliome v0.6871 RNF6 Zornitza Stark Gene: rnf6 has been classified as Red List (Low Evidence).
Mendeliome v0.6870 RNF6 Zornitza Stark reviewed gene: RNF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6870 COL4A6 Paul De Fazio reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752, 12784310; Phenotypes: ?Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.6870 MED12 Zornitza Stark Marked gene: MED12 as ready
Mendeliome v0.6870 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Mendeliome v0.6870 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Mendeliome v0.6869 MED12 Zornitza Stark Publications for gene: MED12 were set to
Mendeliome v0.6868 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6867 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Mendeliome v0.6867 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence).
Mendeliome v0.6867 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from to Pulmonary venoocclusive disease 1 MIM#265450; Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600
Mendeliome v0.6866 BMPR2 Zornitza Stark Publications for gene: BMPR2 were set to
Mendeliome v0.6865 BMPR2 Zornitza Stark Mode of pathogenicity for gene: BMPR2 was changed from to Other
Mendeliome v0.6864 BMPR2 Zornitza Stark Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6863 MED12 Elena Savva reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166, 32174975, 30006928, 27312080; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6863 BMPR2 Elena Savva reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33380512; Phenotypes: Pulmonary venoocclusive disease 1 MIM#265450, Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6863 ZNF711 Zornitza Stark Marked gene: ZNF711 as ready
Mendeliome v0.6863 ZNF711 Zornitza Stark Gene: znf711 has been classified as Green List (High Evidence).
Mendeliome v0.6863 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803
Mendeliome v0.6862 ZNF711 Zornitza Stark Publications for gene: ZNF711 were set to
Mendeliome v0.6861 ZNF711 Zornitza Stark Mode of inheritance for gene: ZNF711 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6860 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: 27993705, 19377476; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6860 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Mendeliome v0.6860 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Mendeliome v0.6860 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Mendeliome v0.6859 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Mendeliome v0.6858 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6857 SLC35A2 Zornitza Stark Tag somatic tag was added to gene: SLC35A2.
Mendeliome v0.6857 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 33407896; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6857 MEF2A Zornitza Stark Mode of inheritance for gene: MEF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6856 MEF2A Zornitza Stark Marked gene: MEF2A as ready
Mendeliome v0.6856 MEF2A Zornitza Stark Gene: mef2a has been classified as Red List (Low Evidence).
Mendeliome v0.6856 MEF2A Zornitza Stark Phenotypes for gene: MEF2A were changed from to {Coronary artery disease, autosomal dominant, 1} 608320
Mendeliome v0.6855 MEF2A Zornitza Stark Classified gene: MEF2A as Red List (low evidence)
Mendeliome v0.6855 MEF2A Zornitza Stark Gene: mef2a has been classified as Red List (Low Evidence).
Mendeliome v0.6854 MEF2A Zornitza Stark reviewed gene: MEF2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, autosomal dominant, 1} 608320; Mode of inheritance: None
Mendeliome v0.6854 FN1 Zornitza Stark Marked gene: FN1 as ready
Mendeliome v0.6854 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Mendeliome v0.6854 FN1 Zornitza Stark Phenotypes for gene: FN1 were changed from to Glomerulopathy with fibronectin deposits 2 (MIM#601894); Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)
Mendeliome v0.6853 FN1 Zornitza Stark Publications for gene: FN1 were set to
Mendeliome v0.6852 FN1 Zornitza Stark Mode of inheritance for gene: FN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6851 IL37 Zornitza Stark Marked gene: IL37 as ready
Mendeliome v0.6851 IL37 Zornitza Stark Gene: il37 has been classified as Red List (Low Evidence).
Mendeliome v0.6851 IL37 Zornitza Stark gene: IL37 was added
gene: IL37 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Mendeliome v0.6850 PEX10 Teresa Zhao reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870), Peroxisome biogenesis disorder 6B (MIM#614871); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6850 FN1 Ain Roesley reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092; Phenotypes: Glomerulopathy with fibronectin deposits 2 (MIM#601894), Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6850 CHRDL1 Zornitza Stark Marked gene: CHRDL1 as ready
Mendeliome v0.6850 CHRDL1 Zornitza Stark Gene: chrdl1 has been classified as Green List (High Evidence).
Mendeliome v0.6850 CHRDL1 Zornitza Stark Phenotypes for gene: CHRDL1 were changed from to Megalocornea OMIM# 309300
Mendeliome v0.6849 CHRDL1 Zornitza Stark Publications for gene: CHRDL1 were set to
Mendeliome v0.6848 CHRDL1 Zornitza Stark Mode of inheritance for gene: CHRDL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6847 CHRDL1 Zornitza Stark reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25093588; Phenotypes: Megalocornea OMIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6847 HDL2 Bryony Thompson Marked STR: HDL2 as ready
Mendeliome v0.6847 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Mendeliome v0.6847 HDL2 Bryony Thompson Classified STR: HDL2 as Green List (high evidence)
Mendeliome v0.6847 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Mendeliome v0.6846 HDL2 Bryony Thompson STR: HDL2 was added
STR: HDL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HDL2 were set to 20301701
Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438
Review for STR: HDL2 was set to GREEN
STR: HDL2 was marked as clinically relevant
Added comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert list
Mendeliome v0.6845 JPH3 Bryony Thompson Classified gene: JPH3 as No list
Mendeliome v0.6845 JPH3 Bryony Thompson Added comment: Comment on list classification: See STRs for this panel
Mendeliome v0.6845 JPH3 Bryony Thompson Gene: jph3 has been removed from the panel.
Mendeliome v0.6844 DM2 Bryony Thompson Marked STR: DM2 as ready
Mendeliome v0.6844 DM2 Bryony Thompson Str: dm2 has been classified as Green List (High Evidence).
Mendeliome v0.6844 DM2 Bryony Thompson Classified STR: DM2 as Green List (high evidence)
Mendeliome v0.6844 DM2 Bryony Thompson Str: dm2 has been classified as Green List (High Evidence).
Mendeliome v0.6843 DM2 Bryony Thompson STR: DM2 was added
STR: DM2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: DM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM2 were set to 20301639; 29325606
Phenotypes for STR: DM2 were set to Myotonic dystrophy 2 MIM#602668
Review for STR: DM2 was set to GREEN
STR: DM2 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]
Toxic gain of function RNA expected mechanism of disease
Normal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions
Unknown significance (normal vs. mutable): 27-29 CCTG repeats
Mutable normal (premutation) alleles. ~30-~54 CCTG repeats
Unknown significance (premutation vs pathogenic): ~55-74 CCTG repeats
Pathogenic: ~75-11,000 CCTG repeats
Sources: Expert list
Mendeliome v0.6842 CNBP Bryony Thompson Marked gene: CNBP as ready
Mendeliome v0.6842 CNBP Bryony Thompson Gene: cnbp has been removed from the panel.
Mendeliome v0.6842 CNBP Bryony Thompson Classified gene: CNBP as No list
Mendeliome v0.6842 CNBP Bryony Thompson Added comment: Comment on list classification: Condition is caused by a CCTG expansion in intron 1. No reported SNVs or indels reported in association with disease. Present under STRs on this panel
Mendeliome v0.6842 CNBP Bryony Thompson Gene: cnbp has been removed from the panel.
Mendeliome v0.6841 DM1 Bryony Thompson Marked STR: DM1 as ready
Mendeliome v0.6841 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Mendeliome v0.6841 DM1 Bryony Thompson Classified STR: DM1 as Green List (high evidence)
Mendeliome v0.6841 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Mendeliome v0.6840 DM1 Bryony Thompson STR: DM1 was added
STR: DM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Review for STR: DM1 was set to GREEN
STR: DM1 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert list
Mendeliome v0.6839 DMPK Bryony Thompson Classified gene: DMPK as No list
Mendeliome v0.6839 DMPK Bryony Thompson Added comment: Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.
Mendeliome v0.6839 DMPK Bryony Thompson Gene: dmpk has been removed from the panel.
Mendeliome v0.6838 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Mendeliome v0.6838 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Mendeliome v0.6838 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Mendeliome v0.6838 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Mendeliome v0.6837 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Mendeliome v0.6836 TBP Bryony Thompson Marked gene: TBP as ready
Mendeliome v0.6836 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Mendeliome v0.6836 TBP Bryony Thompson Classified gene: TBP as No list
Mendeliome v0.6836 TBP Bryony Thompson Added comment: Comment on list classification: See STRs
Mendeliome v0.6836 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Mendeliome v0.6835 SCA12 Bryony Thompson Marked STR: SCA12 as ready
Mendeliome v0.6835 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Mendeliome v0.6835 SCA12 Bryony Thompson Classified STR: SCA12 as Green List (high evidence)
Mendeliome v0.6835 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Mendeliome v0.6834 SCA12 Bryony Thompson STR: SCA12 was added
STR: SCA12 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA12 were set to 29325606; 20301381
Phenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326
Review for STR: SCA12 was set to GREEN
STR: SCA12 was marked as clinically relevant
Added comment: NM_181675.3:c.27CAG[X]
Uncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase
Normal: ≤32 repeats
Reduced penetrance: ~40-66 repeats
Full penetrance: ≥66 repeats
Sources: Expert list
Mendeliome v0.6833 PPP2R2B Bryony Thompson Marked gene: PPP2R2B as ready
Mendeliome v0.6833 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Mendeliome v0.6833 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as No list
Mendeliome v0.6833 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Mendeliome v0.6832 SCA36 Bryony Thompson Marked STR: SCA36 as ready
Mendeliome v0.6832 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Mendeliome v0.6832 SCA36 Bryony Thompson Classified STR: SCA36 as Green List (high evidence)
Mendeliome v0.6832 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Mendeliome v0.6831 SCA36 Bryony Thompson STR: SCA36 was added
STR: SCA36 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA36 were set to 25101480
Phenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153
Review for STR: SCA36 was set to GREEN
STR: SCA36 was marked as clinically relevant
Added comment: NM_006392​.3:c.3+71GGCCTG[X]
Toxic RNA effect is suggested mechanism of disease
Normal: 3-14 repeats
Uncertain significance: 15-650 repeats
Pathogenic: ≥650 repeats
Sources: Expert list
Mendeliome v0.6830 NOP56 Bryony Thompson Classified gene: NOP56 as No list
Mendeliome v0.6830 NOP56 Bryony Thompson Added comment: Comment on list classification: A hexanucleotide (GGCCTG) repeat expansion in the first intron of the NOP56 gene is the only reported cause of disease. See STRS
Mendeliome v0.6830 NOP56 Bryony Thompson Gene: nop56 has been removed from the panel.
Mendeliome v0.6829 SCA37 Bryony Thompson Marked STR: SCA37 as ready
Mendeliome v0.6829 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Mendeliome v0.6829 SCA37 Bryony Thompson Classified STR: SCA37 as Green List (high evidence)
Mendeliome v0.6829 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Mendeliome v0.6828 SCA37 Bryony Thompson STR: SCA37 was added
STR: SCA37 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA37 were set to 28686858; 31145571
Phenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945
Review for STR: SCA37 was set to GREEN
STR: SCA37 was marked as clinically relevant
Added comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Expert list
Mendeliome v0.6827 DAB1 Bryony Thompson Marked gene: DAB1 as ready
Mendeliome v0.6827 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Mendeliome v0.6827 DAB1 Bryony Thompson Classified gene: DAB1 as No list
Mendeliome v0.6827 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Mendeliome v0.6826 SCA31 Bryony Thompson Marked STR: SCA31 as ready
Mendeliome v0.6826 SCA31 Bryony Thompson Str: sca31 has been classified as Green List (High Evidence).
Mendeliome v0.6826 SCA31 Bryony Thompson Classified STR: SCA31 as Green List (high evidence)
Mendeliome v0.6826 SCA31 Bryony Thompson Str: sca31 has been classified as Green List (High Evidence).
Mendeliome v0.6825 SCA31 Bryony Thompson STR: SCA31 was added
STR: SCA31 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA31 were set to 19878914; 31755042
Phenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210
Review for STR: SCA31 was set to GREEN
STR: SCA31 was marked as clinically relevant
Added comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.
2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease
Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042)
Sources: Expert list
Mendeliome v0.6824 BEAN1 Bryony Thompson Marked gene: BEAN1 as ready
Mendeliome v0.6824 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Mendeliome v0.6824 BEAN1 Bryony Thompson Classified gene: BEAN1 as No list
Mendeliome v0.6824 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Mendeliome v0.6823 SCA7 Bryony Thompson Marked STR: SCA7 as ready
Mendeliome v0.6823 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Mendeliome v0.6823 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Mendeliome v0.6823 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Mendeliome v0.6822 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Expert list
Mendeliome v0.6821 ATXN7 Bryony Thompson Marked gene: ATXN7 as ready
Mendeliome v0.6821 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Mendeliome v0.6821 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Mendeliome v0.6821 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Mendeliome v0.6820 SCA3 Bryony Thompson Marked STR: SCA3 as ready
Mendeliome v0.6820 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Mendeliome v0.6820 SCA3 Bryony Thompson Classified STR: SCA3 as Green List (high evidence)
Mendeliome v0.6820 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Mendeliome v0.6819 SCA3 Bryony Thompson STR: SCA3 was added
STR: SCA3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA3 were set to 20301375; 29325606
Phenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Review for STR: SCA3 was set to GREEN
STR: SCA3 was marked as clinically relevant
Added comment: NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert list
Mendeliome v0.6818 ATXN3 Bryony Thompson Classified gene: ATXN3 as No list
Mendeliome v0.6818 ATXN3 Bryony Thompson Gene: atxn3 has been removed from the panel.
Mendeliome v0.6817 SCA2 Bryony Thompson Marked STR: SCA2 as ready
Mendeliome v0.6817 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Mendeliome v0.6817 SCA2 Bryony Thompson Classified STR: SCA2 as Green List (high evidence)
Mendeliome v0.6817 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Mendeliome v0.6816 SCA2 Bryony Thompson STR: SCA2 was added
STR: SCA2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA2 were set to 29325606; 20301452
Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090
Review for STR: SCA2 was set to GREEN
STR: SCA2 was marked as clinically relevant
Added comment: NM_002973​.3:c.496_498CAG[X]
Toxic protein aggregation is mechanism of disease
Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)
Uncertain: 32 repeats
ALS risk allele: 30-32 repeats
Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life
Full penetrance: ≥35 repeats
Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat
Sources: Expert list
Mendeliome v0.6815 ATXN2 Bryony Thompson Classified gene: ATXN2 as No list
Mendeliome v0.6815 ATXN2 Bryony Thompson Gene: atxn2 has been removed from the panel.
Mendeliome v0.6814 SCA10 Bryony Thompson Marked STR: SCA10 as ready
Mendeliome v0.6814 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Mendeliome v0.6814 SCA10 Bryony Thompson Classified STR: SCA10 as Green List (high evidence)
Mendeliome v0.6814 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Mendeliome v0.6813 SCA10 Bryony Thompson STR: SCA10 was added
STR: SCA10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA10 were set to 20301354
Phenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516
Review for STR: SCA10 was set to GREEN
STR: SCA10 was marked as clinically relevant
Added comment: NM_013236​.2:c.1430+54822ATTCT[X]
Toxic RNA gain-of-function mechanism of disease
Normal alleles: 10-32 ATTCT repeats
Alleles of questionable significance: 33-280 ATTCT repeats
Reduced-penetrance alleles: 33-850 repeats
Full-penetrance alleles: 800-4,500 ATTCT repeats
Sources: Expert list
Mendeliome v0.6812 ATXN10 Bryony Thompson Classified gene: ATXN10 as No list
Mendeliome v0.6812 ATXN10 Bryony Thompson Gene: atxn10 has been removed from the panel.
Mendeliome v0.6811 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6811 INPP4A Zornitza Stark Classified gene: INPP4A as Amber List (moderate evidence)
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6810 INPP4A Zornitza Stark gene: INPP4A was added
gene: INPP4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524
Phenotypes for gene: INPP4A were set to Intellectual disability
Review for gene: INPP4A was set to AMBER
Added comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Sources: Literature
Mendeliome v0.6809 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6808 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Kohlschutter-Tonz syndrome-like, MIM# 619229
Mendeliome v0.6808 SATB1 Zornitza Stark edited their review of gene: SATB1: Changed publications: 33513338
Mendeliome v0.6808 SATB1 Zornitza Stark commented on gene: SATB1: Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present. 12 individuals from 11 families reported (one inherited variant, affected parent).
Mendeliome v0.6808 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6807 SATB1 Zornitza Stark Publications for gene: SATB1 were set to 33057194
Mendeliome v0.6806 SATB1 Zornitza Stark Mode of pathogenicity for gene: SATB1 was changed from None to Other
Mendeliome v0.6805 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6805 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Mendeliome v0.6805 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Mendeliome v0.6805 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Mendeliome v0.6804 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Mendeliome v0.6803 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6802 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6802 FLII Zornitza Stark Marked gene: FLII as ready
Mendeliome v0.6802 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6802 FLII Zornitza Stark Classified gene: FLII as Amber List (moderate evidence)
Mendeliome v0.6802 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6801 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature
Mendeliome v0.6800 RHBDF1 Zornitza Stark Marked gene: RHBDF1 as ready
Mendeliome v0.6800 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6800 RHBDF1 Zornitza Stark Classified gene: RHBDF1 as Amber List (moderate evidence)
Mendeliome v0.6800 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6799 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Mendeliome v0.6798 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Mendeliome v0.6798 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6798 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Mendeliome v0.6798 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6797 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Mendeliome v0.6796 NRAP Zornitza Stark Marked gene: NRAP as ready
Mendeliome v0.6796 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Mendeliome v0.6796 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Mendeliome v0.6796 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Mendeliome v0.6795 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Mendeliome v0.6794 MPEG1 Zornitza Stark Marked gene: MPEG1 as ready
Mendeliome v0.6794 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Mendeliome v0.6794 MPEG1 Zornitza Stark Classified gene: MPEG1 as Green List (high evidence)
Mendeliome v0.6794 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Mendeliome v0.6793 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Expert list
Mendeliome v0.6792 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686
Mendeliome v0.6791 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215
Mendeliome v0.6791 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Mendeliome v0.6791 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Mendeliome v0.6791 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Mendeliome v0.6790 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Mendeliome v0.6789 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6788 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6788 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Mendeliome v0.6788 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Mendeliome v0.6788 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Mendeliome v0.6787 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Mendeliome v0.6786 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6785 CSPP1 Zornitza Stark changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Mendeliome v0.6785 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6785 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Mendeliome v0.6785 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Mendeliome v0.6785 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Mendeliome v0.6784 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Mendeliome v0.6783 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6782 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6782 SCA1 Bryony Thompson Marked STR: SCA1 as ready
Mendeliome v0.6782 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Mendeliome v0.6782 SCA1 Bryony Thompson edited their review of STR: SCA1: Changed rating: GREEN
Mendeliome v0.6782 SCA1 Bryony Thompson Classified STR: SCA1 as Green List (high evidence)
Mendeliome v0.6782 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Mendeliome v0.6781 SCA1 Bryony Thompson STR: SCA1 was added
STR: SCA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA1 were set to 29325606; 20301363
Phenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400
STR: SCA1 was marked as clinically relevant
Added comment: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert list
Mendeliome v0.6780 ATXN1 Bryony Thompson Classified gene: ATXN1 as No list
Mendeliome v0.6780 ATXN1 Bryony Thompson Gene: atxn1 has been removed from the panel.
Mendeliome v0.6779 RANBP2 Bryony Thompson Marked gene: RANBP2 as ready
Mendeliome v0.6779 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Mendeliome v0.6779 RANBP2 Bryony Thompson reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118815, 25128471, 25522933, 32048120; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6779 NCSTN Bryony Thompson Marked gene: NCSTN as ready
Mendeliome v0.6779 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Mendeliome v0.6779 NCSTN Bryony Thompson reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 32048120; Phenotypes: Acne inversa, familial, 1 MIM#142690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6779 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Mendeliome v0.6779 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Mendeliome v0.6779 PSENEN Bryony Thompson Phenotypes for gene: PSENEN were changed from to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Mendeliome v0.6778 PSENEN Bryony Thompson Publications for gene: PSENEN were set to
Mendeliome v0.6777 PSENEN Bryony Thompson Mode of inheritance for gene: PSENEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6776 PSENEN Bryony Thompson reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 27900998; Phenotypes: Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Marked gene: ALDH1L2 as ready
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Gene: aldh1l2 has been classified as Red List (Low Evidence).
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Classified gene: ALDH1L2 as Red List (low evidence)
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Gene: aldh1l2 has been classified as Red List (Low Evidence).
Mendeliome v0.6775 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Mendeliome v0.6775 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Mendeliome v0.6775 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Mendeliome v0.6774 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Mendeliome v0.6773 ESCO2 Zornitza Stark Mode of inheritance for gene: ESCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6772 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6772 RNF113A Bryony Thompson Publications for gene: RNF113A were set to 25612912; 31793730
Mendeliome v0.6771 RNF113A Bryony Thompson Classified gene: RNF113A as Green List (high evidence)
Mendeliome v0.6771 RNF113A Bryony Thompson Added comment: Comment on list classification: Additional cases published
Mendeliome v0.6771 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Mendeliome v0.6769 ALDH1L2 Naomi Baker gene: ALDH1L2 was added
gene: ALDH1L2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1L2 were set to PMID: 31341639; 33168096
Phenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Review for gene: ALDH1L2 was set to RED
Added comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease.
Sources: Literature
Mendeliome v0.6769 FAM57B Zornitza Stark Tag new gene name tag was added to gene: FAM57B.
Mendeliome v0.6769 FAM57B Zornitza Stark Marked gene: FAM57B as ready
Mendeliome v0.6769 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Mendeliome v0.6769 FAM57B Zornitza Stark Classified gene: FAM57B as Green List (high evidence)
Mendeliome v0.6769 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Mendeliome v0.6768 FAM57B Zornitza Stark gene: FAM57B was added
gene: FAM57B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM57B were set to 33077892
Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy
Review for gene: FAM57B was set to GREEN
Added comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Sources: Literature
Mendeliome v0.6767 LRRC8A Bryony Thompson Marked gene: LRRC8A as ready
Mendeliome v0.6767 LRRC8A Bryony Thompson Gene: lrrc8a has been classified as Red List (Low Evidence).
Mendeliome v0.6767 LRRC8A Bryony Thompson Classified gene: LRRC8A as Red List (low evidence)
Mendeliome v0.6767 LRRC8A Bryony Thompson Gene: lrrc8a has been classified as Red List (Low Evidence).
Mendeliome v0.6766 LRRC8A Bryony Thompson changed review comment from: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence; to: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence could be identified.
Mendeliome v0.6766 LRRC8A Bryony Thompson reviewed gene: LRRC8A: Rating: RED; Mode of pathogenicity: None; Publications: 14660746; Phenotypes: ?Agammaglobulinemia 5 MIM#613506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6766 SIAE Bryony Thompson Marked gene: SIAE as ready
Mendeliome v0.6766 SIAE Bryony Thompson Gene: siae has been classified as Red List (Low Evidence).
Mendeliome v0.6766 SIAE Bryony Thompson Classified gene: SIAE as Red List (low evidence)
Mendeliome v0.6766 SIAE Bryony Thompson Gene: siae has been classified as Red List (Low Evidence).
Mendeliome v0.6765 SIAE Bryony Thompson reviewed gene: SIAE: Rating: RED; Mode of pathogenicity: None; Publications: 20555325, 28900629, 22200769; Phenotypes: {Autoimmune disease, susceptibility to, 6} MIM#613551; Mode of inheritance: Unknown
Mendeliome v0.6765 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Mendeliome v0.6765 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6765 TAOK2 Bryony Thompson edited their review of gene: TAOK2: Changed phenotypes: Generalized verrucosis, abnormal T cell activation, autism
Mendeliome v0.6765 TAOK2 Bryony Thompson Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Generalized verrucosis; abnormal T cell activation; autism
Mendeliome v0.6764 TAOK2 Bryony Thompson Classified gene: TAOK2 as Amber List (moderate evidence)
Mendeliome v0.6764 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6763 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAOK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TAOK2 were set to 28385331; 29467497
Phenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation
Review for gene: TAOK2 was set to AMBER
Added comment: PMID: 28385331 - A single consanguineous family with generalized verrucosis and abnormal T cell activation, and a homozygous missense (p.R700C), with some assays on patient fibroblasts.
PMID: 29467497 - One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling.
Sources: Literature
Mendeliome v0.6762 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Mendeliome v0.6762 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Mendeliome v0.6762 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Mendeliome v0.6761 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Mendeliome v0.6760 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6759 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6759 POLR3GL Zornitza Stark Phenotypes for gene: POLR3GL were changed from endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy to Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234; endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Mendeliome v0.6758 POLR3GL Zornitza Stark edited their review of gene: POLR3GL: Changed rating: AMBER; Changed phenotypes: Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234
Mendeliome v0.6758 INVS Zornitza Stark Marked gene: INVS as ready
Mendeliome v0.6758 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Mendeliome v0.6758 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Mendeliome v0.6757 INVS Zornitza Stark Publications for gene: INVS were set to
Mendeliome v0.6756 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6755 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6754 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature
Mendeliome v0.6753 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6753 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Mendeliome v0.6753 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Mendeliome v0.6753 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant
Mendeliome v0.6752 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Mendeliome v0.6751 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6750 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Mendeliome v0.6750 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Mendeliome v0.6750 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Mendeliome v0.6749 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Mendeliome v0.6748 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Mendeliome v0.6747 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Mendeliome v0.6747 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Mendeliome v0.6746 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859
Mendeliome v0.6745 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Mendeliome v0.6744 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6743 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to 31203368; 31696996
Mendeliome v0.6742 UBAP1 Zornitza Stark changed review comment from: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.; to: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.

PMID 32934340: additional 7 families. Median age of onset 10yrs.
Mendeliome v0.6742 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340
Mendeliome v0.6742 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Mendeliome v0.6742 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Mendeliome v0.6742 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Mendeliome v0.6741 RTN2 Zornitza Stark Publications for gene: RTN2 were set to
Mendeliome v0.6740 RTN2 Zornitza Stark Mode of inheritance for gene: RTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6739 RTN2 Zornitza Stark reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 27165006; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805, MONDO:0011489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6739 KDM5B Elena Savva reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6739 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Mendeliome v0.6739 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Mendeliome v0.6739 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878
Mendeliome v0.6738 NIPA1 Zornitza Stark Publications for gene: NIPA1 were set to
Mendeliome v0.6737 NIPA1 Zornitza Stark Mode of inheritance for gene: NIPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6736 NIPA1 Zornitza Stark reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508710, 15711826, 32500351, 25133278; Phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363, MONDO:0010878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6736 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6736 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Mendeliome v0.6736 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Mendeliome v0.6736 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Mendeliome v0.6735 DDHD1 Zornitza Stark Publications for gene: DDHD1 were set to
Mendeliome v0.6734 DDHD1 Zornitza Stark Mode of inheritance for gene: DDHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6733 DDHD1 Zornitza Stark reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6733 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755
Mendeliome v0.6732 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant MIM#616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6732 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant MIM#616282 to Spastic paraplegia 73, autosomal dominant MIM#616282; MONDO:0014568
Mendeliome v0.6731 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to 27153400
Mendeliome v0.6730 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, MIM#616907 to Spastic paraplegia 76, autosomal recessive, MIM#616907; MONDO:0014827
Mendeliome v0.6729 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Mendeliome v0.6729 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Green List (High Evidence).
Mendeliome v0.6729 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342
Mendeliome v0.6728 AP5Z1 Zornitza Stark Publications for gene: AP5Z1 were set to
Mendeliome v0.6727 AP5Z1 Zornitza Stark Mode of inheritance for gene: AP5Z1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6726 AP5Z1 Zornitza Stark reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26085577, 33543803, 27606357; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647, MONDO:0013342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6726 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6726 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6725 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Mendeliome v0.6724 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Mendeliome v0.6723 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Mendeliome v0.6723 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Mendeliome v0.6723 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Mendeliome v0.6722 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Mendeliome v0.6721 SLC1A4 Zornitza Stark Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6720 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Mendeliome v0.6720 TFG Zornitza Stark Marked gene: TFG as ready
Mendeliome v0.6720 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Mendeliome v0.6720 TFG Zornitza Stark Phenotypes for gene: TFG were changed from to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Spastic paraplegia 57, autosomal recessive, MIM# 615658
Mendeliome v0.6719 TFG Zornitza Stark Mode of inheritance for gene: TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6718 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643, 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484, Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6718 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Mendeliome v0.6718 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Mendeliome v0.6718 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Mendeliome v0.6717 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Mendeliome v0.6716 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 REEP2 Zornitza Stark Marked gene: REEP2 as ready
Mendeliome v0.6715 REEP2 Zornitza Stark Gene: reep2 has been classified as Green List (High Evidence).
Mendeliome v0.6715 REEP2 Zornitza Stark Phenotypes for gene: REEP2 were changed from to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282
Mendeliome v0.6714 REEP2 Zornitza Stark Publications for gene: REEP2 were set to
Mendeliome v0.6713 REEP2 Zornitza Stark Mode of inheritance for gene: REEP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6712 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33526816, 28491902, 24388663; Phenotypes: Spastic paraplegia 72, dominant and recessive, MIM# 615625, MONDO:0014282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6712 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Mendeliome v0.6712 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Mendeliome v0.6712 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Mendeliome v0.6711 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Mendeliome v0.6710 NT5C2 Zornitza Stark Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162, MONDO:0013165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Mendeliome v0.6709 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Mendeliome v0.6709 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Mendeliome v0.6708 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Mendeliome v0.6707 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6706 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6706 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Mendeliome v0.6706 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Mendeliome v0.6706 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043
Mendeliome v0.6705 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Mendeliome v0.6704 NKX6-2 Zornitza Stark Mode of inheritance for gene: NKX6-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6703 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6703 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Mendeliome v0.6703 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Mendeliome v0.6703 ARPC1B Zornitza Stark Phenotypes for gene: ARPC1B were changed from to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Mendeliome v0.6702 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to
Mendeliome v0.6701 ARPC1B Zornitza Stark Mode of inheritance for gene: ARPC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6700 ARPC1B Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6700 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169; 27005418
Mendeliome v0.6699 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Note additional family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676, so total of 3 unrelated families for bi-allelic fetal phenotype.; Changed publications: 27005418, 32909676
Mendeliome v0.6699 KDM5C Zornitza Stark changed review comment from: Progressive lower limb spasticity is a feature of this ID syndrome. More than 5 unrelated families reported.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.
Mendeliome v0.6699 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Mendeliome v0.6699 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Mendeliome v0.6699 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Mendeliome v0.6698 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Mendeliome v0.6697 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6696 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6696 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Mendeliome v0.6696 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Mendeliome v0.6696 ENTPD1 Zornitza Stark Phenotypes for gene: ENTPD1 were changed from to Spastic paraplegia 64, autosomal recessive MIM#615683
Mendeliome v0.6695 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to
Mendeliome v0.6694 ENTPD1 Zornitza Stark Mode of inheritance for gene: ENTPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 ENTPD1 Zornitza Stark reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mendeliome v0.6693 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mendeliome v0.6693 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mendeliome v0.6692 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mendeliome v0.6691 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6690 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mendeliome v0.6690 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6690 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Mendeliome v0.6690 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Mendeliome v0.6690 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Mendeliome v0.6689 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Mendeliome v0.6688 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Mendeliome v0.6687 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Mendeliome v0.6687 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030
Mendeliome v0.6686 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Mendeliome v0.6685 CYP2U1 Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6684 CYP2U1 Zornitza Stark Deleted their comment
Mendeliome v0.6684 CYP2U1 Zornitza Stark edited their review of gene: CYP2U1: Added comment: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 23176821, 32006740, 29034544
Mendeliome v0.6684 IFRD1 Zornitza Stark Marked gene: IFRD1 as ready
Mendeliome v0.6684 IFRD1 Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Mendeliome v0.6683 KLC4 Zornitza Stark Marked gene: KLC4 as ready
Mendeliome v0.6683 KLC4 Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence).
Mendeliome v0.6683 KLC4 Zornitza Stark gene: KLC4 was added
gene: KLC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to Complicated hereditary spastic paraplegia
Review for gene: KLC4 was set to RED
Added comment: Single family reported.
Sources: Expert Review
Mendeliome v0.6682 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Mendeliome v0.6682 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Mendeliome v0.6682 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Mendeliome v0.6681 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Mendeliome v0.6680 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Mendeliome v0.6678 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
Mendeliome v0.6677 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586351, 30312976; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Mendeliome v0.6676 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Mendeliome v0.6676 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Mendeliome v0.6675 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Mendeliome v0.6674 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6673 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6673 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Mendeliome v0.6673 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Mendeliome v0.6673 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Mendeliome v0.6672 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Mendeliome v0.6671 AIMP1 Zornitza Stark Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6670 AIMP1 Zornitza Stark reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6670 UBA1 Zornitza Stark Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311; 33108101
Mendeliome v0.6669 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed publications: 33690815; Changed phenotypes: VEXAS syndrome, somatic, MIM# 301054
Mendeliome v0.6669 UBA1 Zornitza Stark Tag somatic tag was added to gene: UBA1.
Mendeliome v0.6669 DSG3 Zornitza Stark Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Mendeliome v0.6668 DSG3 Zornitza Stark edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Mendeliome v0.6668 WBP11 Zornitza Stark Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Mendeliome v0.6667 WBP11 Zornitza Stark reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6667 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Mendeliome v0.6667 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Green List (High Evidence).
Mendeliome v0.6667 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from to Autosomal recessive mental retardation, (MIM#608443)
Mendeliome v0.6666 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Mendeliome v0.6665 CC2D1A Zornitza Stark Mode of inheritance for gene: CC2D1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6664 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Autosomal recessive mental retardation, (MIM#608443); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6664 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Mendeliome v0.6664 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Mendeliome v0.6664 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Mendeliome v0.6663 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Mendeliome v0.6662 ZAP70 Zornitza Stark Mode of pathogenicity for gene: ZAP70 was changed from to Other
Mendeliome v0.6661 ZAP70 Zornitza Stark Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6660 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6660 GDF5 Michelle Torres reviewed gene: GDF5: Rating: RED; Mode of pathogenicity: None; Publications: 8589725, 33333243; Phenotypes: ? Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6660 CST3 Zornitza Stark Marked gene: CST3 as ready
Mendeliome v0.6660 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6660 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150
Mendeliome v0.6659 CST3 Zornitza Stark Publications for gene: CST3 were set to
Mendeliome v0.6658 CST3 Zornitza Stark Mode of inheritance for gene: CST3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6657 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Mendeliome v0.6657 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6656 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Mendeliome v0.6656 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6656 NR3C1 Zornitza Stark Marked gene: NR3C1 as ready
Mendeliome v0.6656 NR3C1 Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence).
Mendeliome v0.6656 NR3C1 Zornitza Stark Phenotypes for gene: NR3C1 were changed from to Glucocorticoid resistance, OMIM # 615962
Mendeliome v0.6655 NR3C1 Zornitza Stark Publications for gene: NR3C1 were set to
Mendeliome v0.6654 NR3C1 Zornitza Stark Mode of inheritance for gene: NR3C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6653 NR3C1 Zornitza Stark reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754700, 1704018, 8445027, 31995340, 30158362; Phenotypes: Glucocorticoid resistance, OMIM # 615962; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6653 YY1AP1 Zornitza Stark Publications for gene: YY1AP1 were set to
Mendeliome v0.6652 YY1AP1 Zornitza Stark commented on gene: YY1AP1: Grange syndrome: multiple arterial stenoses, severe early onset hypertension, fibromuscular dysplasia, variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Missense variant reported PMID: 31633303 with moyamoya like phenotype in adult case; fibroblasts suggest that the p.Pro360Leu variant decreases the stability of the YY1AP1 protein but most LOF. PMID: 30556293 non coding variants reported (intronic variants leading to aberrant splicing)
Mendeliome v0.6652 YY1AP1 Zornitza Stark edited their review of gene: YY1AP1: Changed publications: 31633303, 30356112, 31270375, 22987684, 16691574, 27939641, 30556293
Mendeliome v0.6652 NOS3 Zornitza Stark Marked gene: NOS3 as ready
Mendeliome v0.6652 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Mendeliome v0.6652 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from to {Hypertension, susceptibility to}, MIM#145500; {Ischemic stroke, susceptibility to}, MIM# 601367; {Hypertension, pregnancy-induced}, MIM# 189800
Mendeliome v0.6651 NOS3 Zornitza Stark Publications for gene: NOS3 were set to
Mendeliome v0.6650 NOS3 Zornitza Stark Classified gene: NOS3 as Red List (low evidence)
Mendeliome v0.6650 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Mendeliome v0.6649 NOS3 Zornitza Stark reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: 24986538, 28084234, 33652340; Phenotypes: {Hypertension, susceptibility to}, MIM#145500, {Ischemic stroke, susceptibility to}, MIM# 601367, {Hypertension, pregnancy-induced}, MIM# 189800; Mode of inheritance: Unknown
Mendeliome v0.6649 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Mendeliome v0.6649 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Mendeliome v0.6649 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Mendeliome v0.6648 CDT1 Zornitza Stark Publications for gene: CDT1 were set to
Mendeliome v0.6647 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6646 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6646 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Mendeliome v0.6645 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Mendeliome v0.6644 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6643 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6643 UGT2B17 Zornitza Stark Marked gene: UGT2B17 as ready
Mendeliome v0.6643 UGT2B17 Zornitza Stark Gene: ugt2b17 has been classified as Red List (Low Evidence).
Mendeliome v0.6643 UGT2B17 Zornitza Stark Classified gene: UGT2B17 as Red List (low evidence)
Mendeliome v0.6643 UGT2B17 Zornitza Stark Gene: ugt2b17 has been classified as Red List (Low Evidence).
Mendeliome v0.6642 UGT2B17 Ain Roesley reviewed gene: UGT2B17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6642 PLD1 Zornitza Stark changed review comment from: Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy; to: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Mendeliome v0.6642 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093 to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Mendeliome v0.6641 PLD1 Zornitza Stark Publications for gene: PLD1 were set to 27799408
Mendeliome v0.6640 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Mendeliome v0.6640 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Mendeliome v0.6639 PLD1 Zornitza Stark reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799408, 33645542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6639 DONSON Zornitza Stark Marked gene: DONSON as ready
Mendeliome v0.6639 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Mendeliome v0.6639 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Mendeliome v0.6638 DONSON Zornitza Stark Publications for gene: DONSON were set to
Mendeliome v0.6637 DONSON Zornitza Stark Mode of inheritance for gene: DONSON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6636 DONSON Zornitza Stark reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191891, 28630177, 28191891; Phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6636 SQOR Zornitza Stark Marked gene: SQOR as ready
Mendeliome v0.6636 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6636 SQOR Zornitza Stark Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mendeliome v0.6635 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mendeliome v0.6635 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6634 SQOR Zornitza Stark edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mendeliome v0.6634 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392
Mendeliome v0.6633 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Mendeliome v0.6633 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Mendeliome v0.6633 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653
Mendeliome v0.6632 PGK1 Zornitza Stark Publications for gene: PGK1 were set to
Mendeliome v0.6631 PGK1 Zornitza Stark Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6630 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6630 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Mendeliome v0.6630 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Mendeliome v0.6630 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV
Mendeliome v0.6629 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Mendeliome v0.6628 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6627 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6627 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6626 PHKA1 Zornitza Stark edited their review of gene: PHKA1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6626 PHKA1 Zornitza Stark Marked gene: PHKA1 as ready
Mendeliome v0.6626 PHKA1 Zornitza Stark Gene: phka1 has been classified as Green List (High Evidence).
Mendeliome v0.6626 PHKA1 Zornitza Stark Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559
Mendeliome v0.6625 PHKA1 Zornitza Stark Publications for gene: PHKA1 were set to
Mendeliome v0.6624 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6623 PHKA1 Zornitza Stark reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6623 PHKB Zornitza Stark Marked gene: PHKB as ready
Mendeliome v0.6623 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Mendeliome v0.6623 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Mendeliome v0.6622 PHKB Zornitza Stark Publications for gene: PHKB were set to
Mendeliome v0.6621 PHKB Zornitza Stark Mode of inheritance for gene: PHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6620 PHKB Zornitza Stark reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215682, 25266922, 30659246; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750, Glycogen storage disease IXb, MONDO:0009868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6620 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Mendeliome v0.6620 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Mendeliome v0.6620 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM# 613027
Mendeliome v0.6619 PHKG2 Zornitza Stark Publications for gene: PHKG2 were set to
Mendeliome v0.6618 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6617 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896567, 9384616, 10905889; Phenotypes: Glycogen storage disease IXc, MIM# 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6617 PYGL Zornitza Stark Marked gene: PYGL as ready
Mendeliome v0.6617 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Mendeliome v0.6617 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700
Mendeliome v0.6616 PYGL Zornitza Stark Publications for gene: PYGL were set to
Mendeliome v0.6615 PYGL Zornitza Stark Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6614 PYGL Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9529348, 9536091, 33505429, 32961316, 32892177; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6614 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Mendeliome v0.6614 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Mendeliome v0.6614 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Mendeliome v0.6613 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Mendeliome v0.6612 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6611 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6611 LDHA Zornitza Stark Tag SV/CNV tag was added to gene: LDHA.
Mendeliome v0.6611 LDHA Zornitza Stark Marked gene: LDHA as ready
Mendeliome v0.6611 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Mendeliome v0.6611 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, MIM# 612933
Mendeliome v0.6610 LDHA Zornitza Stark Publications for gene: LDHA were set to
Mendeliome v0.6609 LDHA Zornitza Stark Mode of inheritance for gene: LDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6608 LDHA Zornitza Stark reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2334430, 1959923, 8327147; Phenotypes: Glycogen storage disease XI, MIM# 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6608 SIAH1 Zornitza Stark Marked gene: SIAH1 as ready
Mendeliome v0.6608 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Mendeliome v0.6608 SIAH1 Zornitza Stark Classified gene: SIAH1 as Green List (high evidence)
Mendeliome v0.6608 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Mendeliome v0.6607 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Mendeliome v0.6607 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6607 RPL18 Zornitza Stark Classified gene: RPL18 as Amber List (moderate evidence)
Mendeliome v0.6607 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6606 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to 28280134; 32075953
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310
Review for gene: RPL18 was set to AMBER
Added comment: One family and a zebrafish model.
Sources: Expert list
Mendeliome v0.6605 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Mendeliome v0.6605 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Mendeliome v0.6605 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Review for gene: RPS15A was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.6604 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Mendeliome v0.6604 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Mendeliome v0.6604 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Review for gene: RPL35 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.6603 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Mendeliome v0.6603 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Mendeliome v0.6603 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Mendeliome v0.6602 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Mendeliome v0.6601 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6600 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6600 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Mendeliome v0.6600 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Mendeliome v0.6600 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Mendeliome v0.6599 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Mendeliome v0.6598 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6597 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6597 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Mendeliome v0.6597 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Mendeliome v0.6597 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Mendeliome v0.6596 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Mendeliome v0.6595 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6594 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629, MONDO:0012529; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6594 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650 to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Mendeliome v0.6593 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Mendeliome v0.6593 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Mendeliome v0.6593 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650
Mendeliome v0.6592 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Mendeliome v0.6591 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6590 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6590 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis; Ptosis to Oculomotor-abducens synkinesis, MIM# 619215
Mendeliome v0.6589 ACKR3 Zornitza Stark reviewed gene: ACKR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculomotor-abducens synkinesis, MIM# 619215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6589 SIAH1 Arina Puzriakova gene: SIAH1 was added
gene: SIAH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Mendeliome v0.6589 SYCP2L Zornitza Stark Marked gene: SYCP2L as ready
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6589 SYCP2L Zornitza Stark Classified gene: SYCP2L as Amber List (moderate evidence)
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6588 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Mendeliome v0.6588 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Mendeliome v0.6588 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937
Mendeliome v0.6587 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Mendeliome v0.6586 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6585 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 6, MIM# 612561, MONDO:0012937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6585 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Mendeliome v0.6585 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Mendeliome v0.6585 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Mendeliome v0.6585 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Mendeliome v0.6584 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Mendeliome v0.6583 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6582 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Mendeliome v0.6582 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6582 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Mendeliome v0.6582 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Mendeliome v0.6582 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Mendeliome v0.6581 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Mendeliome v0.6580 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6579 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Mendeliome v0.6579 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Mendeliome v0.6578 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6578 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Mendeliome v0.6578 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Mendeliome v0.6578 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Mendeliome v0.6577 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Mendeliome v0.6576 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6575 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6575 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6574 PSAP Zornitza Stark edited their review of gene: PSAP: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6574 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Mendeliome v0.6573 TTC7A Zornitza Stark Publications for gene: TTC7A were set to 30553809; 28936210
Mendeliome v0.6572 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: None
Mendeliome v0.6572 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Mendeliome v0.6572 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Mendeliome v0.6572 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Mendeliome v0.6571 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Mendeliome v0.6570 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6569 CLCN4 Zornitza Stark reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM#300114, intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6569 KIRREL1 Zornitza Stark Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201
Mendeliome v0.6568 KIRREL1 Zornitza Stark edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201
Mendeliome v0.6568 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Mendeliome v0.6567 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Mendeliome v0.6567 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Mendeliome v0.6567 EN1 Zornitza Stark Tag SV/CNV tag was added to gene: EN1.
Tag 5'UTR tag was added to gene: EN1.
Mendeliome v0.6567 EN1 Zornitza Stark Marked gene: EN1 as ready
Mendeliome v0.6567 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Mendeliome v0.6567 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Mendeliome v0.6567 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Mendeliome v0.6566 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.6565 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, macrocephaly, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6564 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6563 EEF2 Zornitza Stark edited their review of gene: EEF2: Added comment: Phenotype reported in PMID 33355653 is distinct from the adult-onset SCA reported in PMID: 23001565. Evidence for association with SCA remains limited.; Changed rating: GREEN; Changed publications: 33355653; Changed phenotypes: Neurodevelopmental disorder, macrocephaly, hydrocephalus
Mendeliome v0.6563 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6562 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26 to Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6561 EEF2 Zornitza Stark Publications for gene: EEF2 were set to 15732118; 23001565
Mendeliome v0.6560 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Mendeliome v0.6560 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Mendeliome v0.6559 MKRN3 Zornitza Stark Marked gene: MKRN3 as ready
Mendeliome v0.6559 MKRN3 Zornitza Stark Gene: mkrn3 has been classified as Green List (High Evidence).
Mendeliome v0.6559 MKRN3 Zornitza Stark Phenotypes for gene: MKRN3 were changed from to Precocious puberty, central, 2, MIM# 615346
Mendeliome v0.6558 MKRN3 Zornitza Stark Publications for gene: MKRN3 were set to
Mendeliome v0.6557 MKRN3 Zornitza Stark Mode of inheritance for gene: MKRN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6556 MKRN3 Zornitza Stark Tag SV/CNV tag was added to gene: MKRN3.
Tag 5'UTR tag was added to gene: MKRN3.
Mendeliome v0.6556 MKRN3 Zornitza Stark reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31687022, 31041429, 31636607, 32480405; Phenotypes: Precocious puberty, central, 2, MIM# 615346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6556 ACSL5 Zornitza Stark Marked gene: ACSL5 as ready
Mendeliome v0.6556 ACSL5 Zornitza Stark Gene: acsl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6556 ACSL5 Zornitza Stark gene: ACSL5 was added
gene: ACSL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSL5 were set to 33191500
Phenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)
Review for gene: ACSL5 was set to RED
Added comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals. Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity. Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Mendeliome v0.6555 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Mendeliome v0.6555 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Mendeliome v0.6555 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from to Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mendeliome v0.6554 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6554 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Mendeliome v0.6553 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6552 EEF2 Eleanor Williams reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23001565, 33355653; Phenotypes: Spinocerebellar ataxia 26 MIM#609306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6552 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Mendeliome v0.6552 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Mendeliome v0.6552 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; cerebral ventriculomegaly; limb contractures
Mendeliome v0.6551 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Mendeliome v0.6550 KIDINS220 Zornitza Stark Mode of inheritance for gene: KIDINS220 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6549 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6549 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Deafness, autosomal recessive 3, MIM# 600316 to Deafness, autosomal recessive 3, MIM# 600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Mendeliome v0.6548 MYO15A Zornitza Stark Publications for gene: MYO15A were set to 27375115; 26226137; 23208854; 19309289; 9603735; 10915760
Mendeliome v0.6547 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; dominant deafness
Mendeliome v0.6546 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Mendeliome v0.6545 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6544 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6544 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Mendeliome v0.6544 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Mendeliome v0.6544 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome; Deafness
Mendeliome v0.6543 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Mendeliome v0.6542 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6541 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071, 10090888, 15551337; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6541 DLK1 Zornitza Stark Marked gene: DLK1 as ready
Mendeliome v0.6541 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Mendeliome v0.6541 DLK1 Zornitza Stark Classified gene: DLK1 as Green List (high evidence)
Mendeliome v0.6541 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Mendeliome v0.6540 DLK1 Zornitza Stark gene: DLK1 was added
gene: DLK1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DLK1 were set to 28324015; 30462238
Phenotypes for gene: DLK1 were set to central precocious puberty
Review for gene: DLK1 was set to GREEN
Added comment: PMID: 30462238 "three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date.
Sources: Expert Review
Mendeliome v0.6539 GDF5 Ain Roesley reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6539 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 22048169; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 MYO15A Eleanor Williams reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 MYO3A Eleanor Williams reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 15917166; Phenotypes: autosomal recessive non-syndromic hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6539 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6538 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mendeliome v0.6537 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Mendeliome v0.6537 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mendeliome v0.6537 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Mendeliome v0.6537 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mendeliome v0.6536 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLRMT were set to 33602924
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Mendeliome v0.6535 PERP Zornitza Stark Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Mendeliome v0.6534 PERP Zornitza Stark Publications for gene: PERP were set to 31898316
Mendeliome v0.6533 PERP Zornitza Stark Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6532 PERP Zornitza Stark Classified gene: PERP as Green List (high evidence)
Mendeliome v0.6532 PERP Zornitza Stark Gene: perp has been classified as Green List (High Evidence).
Mendeliome v0.6531 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6531 KARS Zornitza Stark edited their review of gene: KARS: Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Mendeliome v0.6531 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916 to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Mendeliome v0.6530 KARS Zornitza Stark Marked gene: KARS as ready
Mendeliome v0.6530 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Mendeliome v0.6530 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916
Mendeliome v0.6529 KARS Zornitza Stark Publications for gene: KARS were set to
Mendeliome v0.6528 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6527 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 31618474, 28887846, 25330800, 29615062, 30252186, 28496994, 23768514, 14975237; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6527 APOO Zornitza Stark reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6527 APOO Zornitza Stark Marked gene: APOO as ready
Mendeliome v0.6527 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6527 APOO Zornitza Stark Classified gene: APOO as Amber List (moderate evidence)
Mendeliome v0.6527 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6526 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APOO 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: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mendeliome v0.6526 AMH Zornitza Stark Tag founder tag was added to gene: AMH.
Mendeliome v0.6526 ECE1 Zornitza Stark Marked gene: ECE1 as ready
Mendeliome v0.6526 ECE1 Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence).
Mendeliome v0.6526 ECE1 Zornitza Stark Phenotypes for gene: ECE1 were changed from to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Mendeliome v0.6525 ECE1 Zornitza Stark Publications for gene: ECE1 were set to
Mendeliome v0.6524 ECE1 Zornitza Stark Mode of inheritance for gene: ECE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6523 ECE1 Zornitza Stark Classified gene: ECE1 as Red List (low evidence)
Mendeliome v0.6523 ECE1 Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence).
Mendeliome v0.6522 ECE1 Zornitza Stark reviewed gene: ECE1: Rating: RED; Mode of pathogenicity: None; Publications: 9915973, 9449665, 9449664; Phenotypes: Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6522 AMH Seb Lunke Marked gene: AMH as ready
Mendeliome v0.6522 AMH Seb Lunke Gene: amh has been classified as Green List (High Evidence).
Mendeliome v0.6522 AMH Seb Lunke Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)
Mendeliome v0.6521 AMH Seb Lunke Publications for gene: AMH were set to
Mendeliome v0.6520 AMH Seb Lunke Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6519 AMH Seb Lunke reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6519 PAX4 Zornitza Stark Marked gene: PAX4 as ready
Mendeliome v0.6519 PAX4 Zornitza Stark Gene: pax4 has been classified as Green List (High Evidence).
Mendeliome v0.6519 PAX4 Zornitza Stark Phenotypes for gene: PAX4 were changed from to Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853
Mendeliome v0.6518 PAX4 Zornitza Stark Publications for gene: PAX4 were set to
Mendeliome v0.6517 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6516 PAX4 Zornitza Stark reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225, Diabetes mellitus, type 2, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6516 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Mendeliome v0.6516 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Mendeliome v0.6516 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Mendeliome v0.6515 PCBD1 Zornitza Stark Publications for gene: PCBD1 were set to
Mendeliome v0.6514 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6513 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204001; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6513 SPTAN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported with DEE phenotype.
Mendeliome v0.6513 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Mendeliome v0.6513 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Mendeliome v0.6513 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy
Mendeliome v0.6512 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Mendeliome v0.6511 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6510 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6510 PSAP Zornitza Stark changed review comment from: Well established gene-disease association. Phenotype expansion with early-onset PD reported.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.
Mendeliome v0.6510 PSAP Zornitza Stark Publications for gene: PSAP were set to
Mendeliome v0.6509 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Parkinson disease, AD to Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
Mendeliome v0.6508 PSAP Zornitza Stark changed review comment from: Well established gene-disease association. Phenotype expansion reported with early-onset PD reported.; to: Well established gene-disease association. Phenotype expansion with early-onset PD reported.
Mendeliome v0.6508 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32201884; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical, MIM# 610539, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6508 ACTL9 Zornitza Stark Marked gene: ACTL9 as ready
Mendeliome v0.6508 ACTL9 Zornitza Stark Gene: actl9 has been classified as Green List (High Evidence).
Mendeliome v0.6508 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Developmental disorders to Intellectual disability; autism; congenital anomalies
Mendeliome v0.6507 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM#120100; Muckle-Wells syndrome, MIM#191900; CINCA syndrome, MIM#607115; Deafness, autosomal dominant 34, with or without inflammation, MIM#617772; Keratoendothelitis fugax hereditaria, MIM#148200
Mendeliome v0.6506 NLRP3 Zornitza Stark Mode of pathogenicity for gene: NLRP3 was changed from to Other
Mendeliome v0.6505 IRF4 Bryony Thompson Marked gene: IRF4 as ready
Mendeliome v0.6505 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6505 IRF4 Bryony Thompson Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724; Combined immunodeficiency
Mendeliome v0.6504 IRF4 Bryony Thompson Publications for gene: IRF4 were set to 29537367
Mendeliome v0.6503 IRF4 Bryony Thompson Mode of inheritance for gene: IRF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6502 IRF4 Bryony Thompson Classified gene: IRF4 as Amber List (moderate evidence)
Mendeliome v0.6502 IRF4 Bryony Thompson Added comment: Comment on list classification: Single case and mouse model for recessive combined immunodeficiency
Mendeliome v0.6502 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6501 IRF4 Bryony Thompson reviewed gene: IRF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29408330; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6501 PCBD1 Michelle Torres edited their review of gene: PCBD1: Added comment: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; Changed phenotypes: MODY, Hyperphenylalaninemia, BH4-deficient, D 264070
Mendeliome v0.6501 SPEN Alison Yeung Classified gene: SPEN as Green List (high evidence)
Mendeliome v0.6501 SPEN Alison Yeung Gene: spen has been classified as Green List (High Evidence).
Mendeliome v0.6500 SPTAN1 Alison Yeung Added comment: Comment on mode of inheritance: phenotype expansion
Mendeliome v0.6500 SPTAN1 Alison Yeung Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6499 PSAP Seb Lunke Marked gene: PSAP as ready
Mendeliome v0.6499 PSAP Seb Lunke Gene: psap has been classified as Green List (High Evidence).
Mendeliome v0.6499 PSAP Seb Lunke Phenotypes for gene: PSAP were changed from to Parkinson disease, AD
Mendeliome v0.6498 PSAP Seb Lunke Mode of inheritance for gene: PSAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6497 ACTL9 Alison Yeung Classified gene: ACTL9 as Green List (high evidence)
Mendeliome v0.6497 ACTL9 Alison Yeung Gene: actl9 has been classified as Green List (High Evidence).
Mendeliome v0.6496 MAST2 Seb Lunke Marked gene: MAST2 as ready
Mendeliome v0.6496 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Mendeliome v0.6496 MAST2 Seb Lunke Classified gene: MAST2 as Red List (low evidence)
Mendeliome v0.6496 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Mendeliome v0.6495 SPEN Chern Lim reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6495 ANGPTL6 Alison Yeung Classified gene: ANGPTL6 as Green List (high evidence)
Mendeliome v0.6495 ANGPTL6 Alison Yeung Gene: angptl6 has been classified as Green List (High Evidence).
Mendeliome v0.6494 SPTAN1 Melanie Marty changed review comment from: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients; to: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Mendeliome v0.6494 PCBD1 Michelle Torres changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Mendeliome v0.6494 EPAS1 Seb Lunke Marked gene: EPAS1 as ready
Mendeliome v0.6494 EPAS1 Seb Lunke Gene: epas1 has been classified as Green List (High Evidence).
Mendeliome v0.6494 EPAS1 Seb Lunke Phenotypes for gene: EPAS1 were changed from to Familial erythrocytosis (MIM#4611783), AD
Mendeliome v0.6493 EPAS1 Seb Lunke Publications for gene: EPAS1 were set to
Mendeliome v0.6492 NLRP3 Alison Yeung Classified gene: NLRP3 as Green List (high evidence)
Mendeliome v0.6492 NLRP3 Alison Yeung Gene: nlrp3 has been classified as Green List (High Evidence).
Mendeliome v0.6491 NLRP3 Alison Yeung Publications for gene: NLRP3 were set to
Mendeliome v0.6490 PCBD1 Michelle Torres changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Mendeliome v0.6490 EPAS1 Seb Lunke Added comment: Comment on mode of pathogenicity: Gain-of-function
Mendeliome v0.6490 EPAS1 Seb Lunke Mode of pathogenicity for gene: EPAS1 was changed from to Other
Mendeliome v0.6489 NLRP3 Alison Yeung Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6488 EPAS1 Seb Lunke Mode of inheritance for gene: EPAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6487 NLRP3 Alison Yeung Marked gene: NLRP3 as ready
Mendeliome v0.6487 NLRP3 Alison Yeung Gene: nlrp3 has been classified as Green List (High Evidence).
Mendeliome v0.6487 PCBD1 Michelle Torres reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6487 SPTAN1 Melanie Marty reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33578420, 31332438; Phenotypes: hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6487 MED27 Alison Yeung Marked gene: MED27 as ready
Mendeliome v0.6487 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Mendeliome v0.6487 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Mendeliome v0.6487 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Mendeliome v0.6486 PSAP Ain Roesley reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32201884; Phenotypes: parkinson's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6486 MED27 Alison Yeung Deleted their comment
Mendeliome v0.6486 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families with balletic variants
Sources: Literature
Mendeliome v0.6485 ACTL9 Elena Savva gene: ACTL9 was added
gene: ACTL9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL9 were set to PMID: 33626338
Phenotypes for gene: ACTL9 were set to Fertilization failure; male infertility
Review for gene: ACTL9 was set to GREEN
Added comment: Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A
All variants very rare in gnomAD.
Sources: Literature
Mendeliome v0.6485 MAST2 Elena Savva gene: MAST2 was added
gene: MAST2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to PMID: 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets
Sources: Literature
Mendeliome v0.6485 ANGPTL6 Seb Lunke reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33106390; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6485 EPAS1 Teresa Zhao reviewed gene: EPAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27292716, 19208626; Phenotypes: Familial erythrocytosis (MIM#4611783), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6485 NLRP3 Elena Savva reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25038238; Phenotypes: Familial cold inflammatory syndrome 1, MIM#120100, Muckle-Wells syndrome, MIM#191900, CINCA syndrome, MIM#607115, Deafness, autosomal dominant 34, with or without inflammation, MIM#617772, Keratoendothelitis fugax hereditaria, MIM#148200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6485 AGPS Zornitza Stark Marked gene: AGPS as ready
Mendeliome v0.6485 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Mendeliome v0.6485 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Mendeliome v0.6484 AGPS Zornitza Stark Publications for gene: AGPS were set to
Mendeliome v0.6483 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6482 AGPS Zornitza Stark reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6482 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Mendeliome v0.6482 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6482 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008
Mendeliome v0.6481 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Mendeliome v0.6480 BANF1 Zornitza Stark Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6479 BANF1 Zornitza Stark Classified gene: BANF1 as Amber List (moderate evidence)
Mendeliome v0.6479 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6478 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6478 FOXP2 Zornitza Stark Marked gene: FOXP2 as ready
Mendeliome v0.6478 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Green List (High Evidence).
Mendeliome v0.6478 FOXP2 Zornitza Stark Phenotypes for gene: FOXP2 were changed from to Speech-language disorder-1, MIM# 602081
Mendeliome v0.6477 FOXP2 Zornitza Stark Publications for gene: FOXP2 were set to
Mendeliome v0.6476 FOXP2 Zornitza Stark Mode of inheritance for gene: FOXP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6475 FOXP2 Zornitza Stark reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877281, 15983371, 27336128; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6475 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Mendeliome v0.6475 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Mendeliome v0.6475 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
Mendeliome v0.6474 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Mendeliome v0.6473 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6472 KIF22 Zornitza Stark Marked gene: KIF22 as ready
Mendeliome v0.6472 KIF22 Zornitza Stark Gene: kif22 has been classified as Green List (High Evidence).
Mendeliome v0.6472 KIF22 Zornitza Stark Publications for gene: KIF22 were set to 22152677; 22152678
Mendeliome v0.6471 KIF22 Zornitza Stark reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: 25256152; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6471 KIF22 Zornitza Stark Phenotypes for gene: KIF22 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546
Mendeliome v0.6470 KIF22 Zornitza Stark Publications for gene: KIF22 were set to
Mendeliome v0.6469 KIF22 Zornitza Stark Mode of inheritance for gene: KIF22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6468 ANKZF1 Bryony Thompson Marked gene: ANKZF1 as ready
Mendeliome v0.6468 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6468 ANKZF1 Bryony Thompson Classified gene: ANKZF1 as Amber List (moderate evidence)
Mendeliome v0.6468 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6467 ANKZF1 Bryony Thompson gene: ANKZF1 was added
gene: ANKZF1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKZF1 were set to 28302725
Phenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease
Review for gene: ANKZF1 was set to AMBER
Added comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity.
Sources: Other
Mendeliome v0.6466 ANGPT1 Bryony Thompson Classified gene: ANGPT1 as Amber List (moderate evidence)
Mendeliome v0.6466 ANGPT1 Bryony Thompson Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6465 ANGPT1 Bryony Thompson gene: ANGPT1 was added
gene: ANGPT1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224
Phenotypes for gene: ANGPT1 were set to Hereditary angioedema
Review for gene: ANGPT1 was set to AMBER
Added comment: A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene.
Sources: Other
Mendeliome v0.6464 CLTCL1 Bryony Thompson Marked gene: CLTCL1 as ready
Mendeliome v0.6464 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6464 CLTCL1 Bryony Thompson Classified gene: CLTCL1 as Amber List (moderate evidence)
Mendeliome v0.6464 CLTCL1 Bryony Thompson Added comment: Comment on list classification: A single family, but also some compelling functional data for an association with insensitivity to pain.
Mendeliome v0.6464 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6463 CLTCL1 Bryony Thompson changed review comment from: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature; to: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system.

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature
Mendeliome v0.6463 CLTCL1 Bryony Thompson gene: CLTCL1 was added
gene: CLTCL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLTCL1 were set to 26068709; 29402896; 22511880; 31354784
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Review for gene: CLTCL1 was set to AMBER
Added comment: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature
Mendeliome v0.6462 KIF22 Elena Savva reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6462 GLI3 Elena Savva reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32591344, 18000979, 24736735; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6462 C14orf39 Zornitza Stark Phenotypes for gene: C14orf39 were changed from Azoospermia; Premature ovarian insufficiency to Spermatogenic failure 52, MIM# 619202; Premature ovarian failure 18 619203
Mendeliome v0.6461 C14orf39 Zornitza Stark reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 52, MIM# 619202, Premature ovarian failure 18 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6461 SLC7A6OS Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191
Mendeliome v0.6460 SLC7A6OS Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191
Mendeliome v0.6460 G6PC Zornitza Stark Marked gene: G6PC as ready
Mendeliome v0.6460 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Mendeliome v0.6460 G6PC Zornitza Stark Phenotypes for gene: G6PC were changed from to Glycogen storage disease Ia, MIM# 232200
Mendeliome v0.6459 G6PC Zornitza Stark Publications for gene: G6PC were set to
Mendeliome v0.6458 G6PC Zornitza Stark Mode of inheritance for gene: G6PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6457 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8733042; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6457 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Mendeliome v0.6457 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 ALPI Zornitza Stark changed review comment from: Third family reported 2020, PMID 32084423.; to: Family reported 2020, PMID 32084423 is actually already previously reported.
Mendeliome v0.6456 ALPI Zornitza Stark edited their review of gene: ALPI: Changed rating: AMBER
Mendeliome v0.6456 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 NMNAT2 Bryony Thompson Classified gene: NMNAT2 as Amber List (moderate evidence)
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6455 NMNAT2 Bryony Thompson gene: NMNAT2 was added
gene: NMNAT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363; 25271157; 20126265
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Review for gene: NMNAT2 was set to AMBER
Added comment: A single family with siblings with a homozygous variant that confers a partial loss of function. Strong supporting functional evidence that the gene plays a key role in axonal survival.
Sources: Literature
Mendeliome v0.6454 CCT5 Bryony Thompson Phenotypes for gene: CCT5 were changed from to Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840
Mendeliome v0.6453 CCT5 Bryony Thompson Publications for gene: CCT5 were set to
Mendeliome v0.6452 CCT5 Bryony Thompson Mode of inheritance for gene: CCT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6451 USF1 Bryony Thompson Marked gene: USF1 as ready
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6451 USF1 Bryony Thompson Classified gene: USF1 as Red List (low evidence)
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6450 USF1 Bryony Thompson reviewed gene: USF1: Rating: RED; Mode of pathogenicity: None; Publications: 14991056, 16076849, 31725952; Phenotypes: Hyperlipidemia, familial combined, susceptibility to MIM#602491; Mode of inheritance: Unknown
Mendeliome v0.6450 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Mendeliome v0.6449 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Mendeliome v0.6449 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family published in 2020
Mendeliome v0.6449 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Mendeliome v0.6447 LIPI Bryony Thompson Marked gene: LIPI as ready
Mendeliome v0.6447 LIPI Bryony Thompson Gene: lipi has been classified as Red List (Low Evidence).
Mendeliome v0.6447 LIPI Bryony Thompson Classified gene: LIPI as Red List (low evidence)
Mendeliome v0.6447 LIPI Bryony Thompson Gene: lipi has been classified as Red List (Low Evidence).
Mendeliome v0.6446 LIPI Bryony Thompson reviewed gene: LIPI: Rating: RED; Mode of pathogenicity: None; Publications: 12719377; Phenotypes: Hypertriglycidaemia, familial; Mode of inheritance: Unknown
Mendeliome v0.6446 GALNT12 Bryony Thompson Marked gene: GALNT12 as ready
Mendeliome v0.6446 GALNT12 Bryony Thompson Gene: galnt12 has been classified as Red List (Low Evidence).
Mendeliome v0.6446 GALNT12 Bryony Thompson Classified gene: GALNT12 as Red List (low evidence)
Mendeliome v0.6446 GALNT12 Bryony Thompson Gene: galnt12 has been classified as Red List (Low Evidence).
Mendeliome v0.6445 GALNT12 Bryony Thompson reviewed gene: GALNT12: Rating: RED; Mode of pathogenicity: None; Publications: 19617566, 30523343, 29749045; Phenotypes: Colorectal cancer, susceptibility to, 1 MIM#608812; Mode of inheritance: Unknown
Mendeliome v0.6445 C1GALT1C1 Bryony Thompson Tag somatic tag was added to gene: C1GALT1C1.
Mendeliome v0.6445 ABCG2 Bryony Thompson Marked gene: ABCG2 as ready
Mendeliome v0.6445 ABCG2 Bryony Thompson Gene: abcg2 has been classified as Red List (Low Evidence).
Mendeliome v0.6445 ABCG2 Bryony Thompson Classified gene: ABCG2 as Red List (low evidence)
Mendeliome v0.6445 ABCG2 Bryony Thompson Gene: abcg2 has been classified as Red List (Low Evidence).
Mendeliome v0.6444 ABCG2 Bryony Thompson reviewed gene: ABCG2: Rating: RED; Mode of pathogenicity: None; Publications: 22246505, 20368174, 26810134; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6444 SAT1 Bryony Thompson Marked gene: SAT1 as ready
Mendeliome v0.6444 SAT1 Bryony Thompson Gene: sat1 has been classified as Red List (Low Evidence).
Mendeliome v0.6444 SAT1 Bryony Thompson Classified gene: SAT1 as Red List (low evidence)
Mendeliome v0.6444 SAT1 Bryony Thompson Gene: sat1 has been classified as Red List (Low Evidence).
Mendeliome v0.6443 SAT1 Bryony Thompson reviewed gene: SAT1: Rating: RED; Mode of pathogenicity: None; Publications: 12215835, 20672378, 9228047; Phenotypes: Keratosis follicularis spinulosa decalvans; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6443 ALPI Zornitza Stark Publications for gene: ALPI were set to 29567797
Mendeliome v0.6442 ALPI Zornitza Stark Classified gene: ALPI as Green List (high evidence)
Mendeliome v0.6442 ALPI Zornitza Stark Gene: alpi has been classified as Green List (High Evidence).
Mendeliome v0.6441 ALPI Zornitza Stark edited their review of gene: ALPI: Added comment: Third family reported 2020, PMID 32084423.; Changed rating: GREEN; Changed publications: 29567797, 32084423
Mendeliome v0.6441 MIR5004 Bryony Thompson Marked gene: MIR5004 as ready
Mendeliome v0.6441 MIR5004 Bryony Thompson Gene: mir5004 has been classified as Red List (Low Evidence).
Mendeliome v0.6441 MIR5004 Bryony Thompson Classified gene: MIR5004 as Red List (low evidence)
Mendeliome v0.6441 MIR5004 Bryony Thompson Gene: mir5004 has been classified as Red List (Low Evidence).
Mendeliome v0.6440 MIR5004 Bryony Thompson reviewed gene: MIR5004: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6440 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185
Mendeliome v0.6439 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Mendeliome v0.6438 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Mendeliome v0.6438 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Mendeliome v0.6437 TOGARAM1 Zornitza Stark reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32453716; Phenotypes: Joubert syndrome 37, MIM# 619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6437 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Mendeliome v0.6437 ALDOA Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence).
Mendeliome v0.6437 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII , MIM#611881
Mendeliome v0.6436 ALDOA Zornitza Stark Publications for gene: ALDOA were set to
Mendeliome v0.6435 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6434 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6434 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Mendeliome v0.6434 RDH5 Zornitza Stark Gene: rdh5 has been classified as Green List (High Evidence).
Mendeliome v0.6434 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from to Fundus albipunctatus (MIM#136880)
Mendeliome v0.6433 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Mendeliome v0.6432 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from to Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)
Mendeliome v0.6430 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Mendeliome v0.6429 RPGRIP1 Zornitza Stark Mode of inheritance for gene: RPGRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6428 RPGRIP1 Ain Roesley reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33308271, 31666973; Phenotypes: Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6428 IRX4 Zornitza Stark Marked gene: IRX4 as ready
Mendeliome v0.6428 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6428 IRX4 Zornitza Stark Phenotypes for gene: IRX4 were changed from to Ventricular septal defect
Mendeliome v0.6427 IRX4 Zornitza Stark Publications for gene: IRX4 were set to
Mendeliome v0.6426 IRX4 Zornitza Stark Mode of inheritance for gene: IRX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6425 IRX4 Zornitza Stark Classified gene: IRX4 as Red List (low evidence)
Mendeliome v0.6425 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6424 IRX4 Zornitza Stark reviewed gene: IRX4: Rating: RED; Mode of pathogenicity: None; Publications: 21544582; Phenotypes: Ventricular septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6424 AKAP6 Zornitza Stark Marked gene: AKAP6 as ready
Mendeliome v0.6424 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6424 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from to Intellectual disability
Mendeliome v0.6423 AKAP6 Zornitza Stark Publications for gene: AKAP6 were set to
Mendeliome v0.6422 AKAP6 Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6421 AKAP6 Zornitza Stark Classified gene: AKAP6 as Amber List (moderate evidence)
Mendeliome v0.6421 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6420 ASCC3 Bryony Thompson Marked gene: ASCC3 as ready
Mendeliome v0.6420 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Mendeliome v0.6420 ASCC3 Bryony Thompson Classified gene: ASCC3 as Green List (high evidence)
Mendeliome v0.6420 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Mendeliome v0.6419 ASCC3 Bryony Thompson gene: ASCC3 was added
gene: ASCC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to Neuromuscular syndrome; congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Mendeliome v0.6418 RDH5 Ain Roesley reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6418 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies
Mendeliome v0.6417 HS2ST1 Zornitza Stark reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6417 UBR7 Zornitza Stark Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Mendeliome v0.6416 UBR7 Zornitza Stark edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Mendeliome v0.6416 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD
Mendeliome v0.6415 ZNF292 Zornitza Stark edited their review of gene: ZNF292: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188, Intellectual disability, Autism, ADHD
Mendeliome v0.6415 ARSG Bryony Thompson Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023; 32455177
Mendeliome v0.6414 ARSG Bryony Thompson Classified gene: ARSG as Green List (high evidence)
Mendeliome v0.6414 ARSG Bryony Thompson Added comment: Comment on list classification: 2 additional families reported, upgraded to green
Mendeliome v0.6414 ARSG Bryony Thompson Gene: arsg has been classified as Green List (High Evidence).
Mendeliome v0.6413 ARSG Bryony Thompson reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6413 LMNB2 Zornitza Stark Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to} 608709; Congenital microcephaly, Intellectual disability to {Lipodystrophy, partial, acquired, susceptibility to} 608709; Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly, Intellectual disability
Mendeliome v0.6412 LMNB2 Zornitza Stark edited their review of gene: LMNB2: Changed phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709, Microcephaly 27, primary, autosomal dominant, MIM# 619180, Congenital microcephaly, Intellectual disability
Mendeliome v0.6412 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Mendeliome v0.6411 LMNB1 Zornitza Stark edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Mendeliome v0.6411 FGF13 Zornitza Stark Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy
Mendeliome v0.6410 FGF13 Zornitza Stark edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy
Mendeliome v0.6410 CRYM Zornitza Stark Marked gene: CRYM as ready
Mendeliome v0.6410 CRYM Zornitza Stark Gene: crym has been classified as Green List (High Evidence).
Mendeliome v0.6410 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40 MIM#616357
Mendeliome v0.6409 CRYM Zornitza Stark Publications for gene: CRYM were set to
Mendeliome v0.6408 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6407 CRYM Paul De Fazio reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.6407 HARS Zornitza Stark Marked gene: HARS as ready
Mendeliome v0.6407 HARS Zornitza Stark Gene: hars has been classified as Green List (High Evidence).
Mendeliome v0.6407 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 to Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome
Mendeliome v0.6406 HARS Zornitza Stark Publications for gene: HARS were set to 26072516
Mendeliome v0.6405 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6404 HARS Elena Savva reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32333447, 32940403, 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625, Usher syndrome type 3B MIM#614504, Multisystemic ataxic syndrome; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6404 CFAP47 Zornitza Stark Phenotypes for gene: CFAP47 were changed from asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)
Mendeliome v0.6403 CFAP47 Zornitza Stark edited their review of gene: CFAP47: Changed phenotypes: Spermatogenic failure, X-linked, 3, MIM# 301059
Mendeliome v0.6403 PSMG2 Zornitza Stark Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Mendeliome v0.6402 PSMG2 Zornitza Stark edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy
Mendeliome v0.6402 PSMB10 Zornitza Stark Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Mendeliome v0.6401 PSMB10 Zornitza Stark edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Mendeliome v0.6401 PMVK Zornitza Stark Marked gene: PMVK as ready
Mendeliome v0.6401 PMVK Zornitza Stark Gene: pmvk has been classified as Green List (High Evidence).
Mendeliome v0.6401 PMVK Zornitza Stark Classified gene: PMVK as Green List (high evidence)
Mendeliome v0.6401 PMVK Zornitza Stark Gene: pmvk has been classified as Green List (High Evidence).
Mendeliome v0.6400 PMVK Zornitza Stark gene: PMVK was added
gene: PMVK was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 26202976
Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, MIM# 175800
Review for gene: PMVK was set to GREEN
Added comment: At least 9 individuals reported.
Sources: Expert Review
Mendeliome v0.6399 MVD Zornitza Stark Marked gene: MVD as ready
Mendeliome v0.6399 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mendeliome v0.6399 MVD Zornitza Stark Classified gene: MVD as Green List (high evidence)
Mendeliome v0.6399 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mendeliome v0.6398 MVD Zornitza Stark gene: MVD was added
gene: MVD was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823; 33491095
Phenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714
Review for gene: MVD was set to GREEN
Added comment: Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. At least 5 individuals reported.
Sources: Expert list
Mendeliome v0.6397 SCUBE3 Zornitza Stark Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Mendeliome v0.6396 SCUBE3 Zornitza Stark edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies
Mendeliome v0.6396 UNC45B Zornitza Stark Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, MIM# 619178; Progressive Myopathy with Eccentric Cores
Mendeliome v0.6395 UNC45B Zornitza Stark reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myofibrillar myopathy 11, MIM# 619178; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6395 SHROOM3 Zornitza Stark Marked gene: SHROOM3 as ready
Mendeliome v0.6395 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6395 SHROOM3 Zornitza Stark Classified gene: SHROOM3 as Amber List (moderate evidence)
Mendeliome v0.6395 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6394 SHROOM3 Zornitza Stark gene: SHROOM3 was added
gene: SHROOM3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHROOM3 were set to 32621286
Phenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate
Review for gene: SHROOM3 was set to AMBER
Added comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P.
Sources: Expert Review
Mendeliome v0.6393 FLT3 Zornitza Stark Marked gene: FLT3 as ready
Mendeliome v0.6393 FLT3 Zornitza Stark Gene: flt3 has been classified as Red List (Low Evidence).
Mendeliome v0.6393 FLT3 Zornitza Stark Classified gene: FLT3 as Red List (low evidence)
Mendeliome v0.6393 FLT3 Zornitza Stark Gene: flt3 has been classified as Red List (Low Evidence).
Mendeliome v0.6392 FLT3 Zornitza Stark reviewed gene: FLT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6392 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Mendeliome v0.6392 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Mendeliome v0.6392 MSL3 Zornitza Stark Phenotypes for gene: MSL3 were changed from to Basilicata-Akhtar syndrome, OMIM # 301032
Mendeliome v0.6391 MSL3 Zornitza Stark Publications for gene: MSL3 were set to
Mendeliome v0.6390 MSL3 Zornitza Stark Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6389 MSL3 Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6389 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Mendeliome v0.6389 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Mendeliome v0.6389 TOE1 Zornitza Stark Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Mendeliome v0.6388 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Mendeliome v0.6387 TOE1 Zornitza Stark Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6386 TOE1 Zornitza Stark reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6386 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Mendeliome v0.6386 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Mendeliome v0.6386 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596; SMA
Mendeliome v0.6385 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Mendeliome v0.6384 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6383 VRK1 Zornitza Stark edited their review of gene: VRK1: Changed rating: GREEN; Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, SMA
Mendeliome v0.6383 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Mendeliome v0.6383 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Mendeliome v0.6383 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Mendeliome v0.6382 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Mendeliome v0.6381 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6380 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Mendeliome v0.6380 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Mendeliome v0.6380 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment
Mendeliome v0.6379 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Mendeliome v0.6378 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6377 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6377 ITPR1 Zornitza Stark changed review comment from: Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.; to: Gillespie syndrome: usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.
Mendeliome v0.6377 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Mendeliome v0.6377 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Mendeliome v0.6377 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700; Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Mendeliome v0.6376 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Mendeliome v0.6375 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6374 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6374 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Mendeliome v0.6374 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Mendeliome v0.6374 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Mendeliome v0.6373 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Mendeliome v0.6372 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6371 EXOSC8 Zornitza Stark Tag founder tag was added to gene: EXOSC8.
Mendeliome v0.6371 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6371 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mendeliome v0.6371 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Mendeliome v0.6371 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Mendeliome v0.6370 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Mendeliome v0.6369 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6368 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6368 CLP1 Zornitza Stark Tag founder tag was added to gene: CLP1.
Mendeliome v0.6368 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Mendeliome v0.6368 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Mendeliome v0.6368 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia type 10, MIM# 615803
Mendeliome v0.6367 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Mendeliome v0.6366 CLP1 Zornitza Stark Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6365 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6365 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Mendeliome v0.6365 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Mendeliome v0.6365 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Mendeliome v0.6364 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Mendeliome v0.6363 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6362 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6362 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Mendeliome v0.6362 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Mendeliome v0.6362 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Mendeliome v0.6361 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Mendeliome v0.6360 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6359 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6359 DHODH Zornitza Stark Marked gene: DHODH as ready
Mendeliome v0.6359 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Mendeliome v0.6359 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750
Mendeliome v0.6358 DHODH Zornitza Stark Publications for gene: DHODH were set to
Mendeliome v0.6357 DHODH Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6356 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6356 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Mendeliome v0.6356 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Mendeliome v0.6356 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Mendeliome v0.6355 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Mendeliome v0.6354 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6353 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6353 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Mendeliome v0.6353 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Mendeliome v0.6353 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
Mendeliome v0.6352 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Mendeliome v0.6351 LAMA3 Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6350 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6350 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Mendeliome v0.6350 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Mendeliome v0.6350 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Mendeliome v0.6349 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Mendeliome v0.6348 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6347 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6347 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Mendeliome v0.6347 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Mendeliome v0.6347 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Mendeliome v0.6346 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Mendeliome v0.6345 LAMC2 Zornitza Stark Mode of inheritance for gene: LAMC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6344 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11810295, 25888738, 24533970; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6344 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Mendeliome v0.6344 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Mendeliome v0.6344 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Mendeliome v0.6343 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6342 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6342 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from Benign partial epilepsy; febrile seizures; NCL to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173; Neurodegeneration; Benign partial epilepsy; febrile seizures; NCL
Mendeliome v0.6341 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136
Mendeliome v0.6340 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173, Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL
Mendeliome v0.6340 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Mendeliome v0.6340 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Mendeliome v0.6340 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730
Mendeliome v0.6339 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Mendeliome v0.6338 ITGA6 Zornitza Stark Mode of inheritance for gene: ITGA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6337 ITGA6 Zornitza Stark reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6337 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Mendeliome v0.6337 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Mendeliome v0.6337 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Mendeliome v0.6336 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Mendeliome v0.6335 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6334 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6334 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Mendeliome v0.6334 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Green List (High Evidence).
Mendeliome v0.6334 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Mendeliome v0.6333 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Mendeliome v0.6332 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6331 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6331 EXPH5 Zornitza Stark Marked gene: EXPH5 as ready
Mendeliome v0.6331 EXPH5 Zornitza Stark Gene: exph5 has been classified as Green List (High Evidence).
Mendeliome v0.6331 EXPH5 Zornitza Stark Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Mendeliome v0.6330 EXPH5 Zornitza Stark Publications for gene: EXPH5 were set to
Mendeliome v0.6329 EXPH5 Zornitza Stark Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6328 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6328 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Mendeliome v0.6328 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Mendeliome v0.6328 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Mendeliome v0.6327 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6326 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6326 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Mendeliome v0.6326 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Mendeliome v0.6326 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Mendeliome v0.6325 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to
Mendeliome v0.6324 IGSF1 Zornitza Stark Mode of inheritance for gene: IGSF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6323 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6323 FSTL5 Zornitza Stark Marked gene: FSTL5 as ready
Mendeliome v0.6323 FSTL5 Zornitza Stark Gene: fstl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6323 FSTL5 Zornitza Stark Classified gene: FSTL5 as Red List (low evidence)
Mendeliome v0.6323 FSTL5 Zornitza Stark Gene: fstl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6322 NCOA3 Zornitza Stark Marked gene: NCOA3 as ready
Mendeliome v0.6322 NCOA3 Zornitza Stark Gene: ncoa3 has been classified as Red List (Low Evidence).
Mendeliome v0.6322 NCOA3 Zornitza Stark Classified gene: NCOA3 as Red List (low evidence)
Mendeliome v0.6322 NCOA3 Zornitza Stark Gene: ncoa3 has been classified as Red List (Low Evidence).
Mendeliome v0.6321 FCHO1 Zornitza Stark Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Mendeliome v0.6320 FCHO1 Zornitza Stark edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis
Mendeliome v0.6320 FSTL5 Eleanor Williams gene: FSTL5 was added
gene: FSTL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FSTL5 was set to Unknown
Publications for gene: FSTL5 were set to 33105483
Phenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus
Review for gene: FSTL5 was set to RED
Added comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice.
Sources: Literature
Mendeliome v0.6320 NCOA3 Eleanor Williams gene: NCOA3 was added
gene: NCOA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCOA3 were set to 33326993
Phenotypes for gene: NCOA3 were set to non-syndromic hearing loss
Review for gene: NCOA3 was set to RED
Added comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity.
Sources: Literature
Mendeliome v0.6320 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Mendeliome v0.6320 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence).
Mendeliome v0.6320 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6319 CFHR3 Zornitza Stark Publications for gene: CFHR3 were set to
Mendeliome v0.6318 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Mendeliome v0.6317 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence).
Mendeliome v0.6317 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6316 CFHR1 Zornitza Stark Publications for gene: CFHR1 were set to
Mendeliome v0.6315 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR3 Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 OTUD5 Zornitza Stark Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Mendeliome v0.6313 OTUD5 Zornitza Stark Publications for gene: OTUD5 were set to 33131077
Mendeliome v0.6312 OTUD5 Zornitza Stark Classified gene: OTUD5 as Green List (high evidence)
Mendeliome v0.6312 OTUD5 Zornitza Stark Gene: otud5 has been classified as Green List (High Evidence).
Mendeliome v0.6311 OTUD5 Zornitza Stark edited their review of gene: OTUD5: Added comment: PMID 33523931: Another 10 individuals from 7 families reported, promote to Green. X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.; Changed rating: GREEN; Changed publications: 33131077, 33523931; Changed phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Mendeliome v0.6311 SCARB1 Bryony Thompson Marked gene: SCARB1 as ready
Mendeliome v0.6311 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6311 SCARB1 Bryony Thompson Phenotypes for gene: SCARB1 were changed from to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias
Mendeliome v0.6310 SCARB1 Bryony Thompson Publications for gene: SCARB1 were set to
Mendeliome v0.6309 SCARB1 Bryony Thompson Mode of inheritance for gene: SCARB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6308 SCARB1 Bryony Thompson Classified gene: SCARB1 as Amber List (moderate evidence)
Mendeliome v0.6308 SCARB1 Bryony Thompson Added comment: Comment on list classification: Benign clinical phenotype
Mendeliome v0.6308 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6307 SCARB1 Bryony Thompson reviewed gene: SCARB1: Rating: ; Mode of pathogenicity: None; Publications: 21226579, 30720493, 21480869, 26965621, 27604308; Phenotypes: High density lipoprotein cholesterol level QTL6 MIM#610762, Scavenger receptor class B type I deficiency, Inherited hypolipidaemias; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6307 CETP Bryony Thompson Marked gene: CETP as ready
Mendeliome v0.6307 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6307 CETP Bryony Thompson Phenotypes for gene: CETP were changed from to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism
Mendeliome v0.6306 CETP Bryony Thompson Publications for gene: CETP were set to
Mendeliome v0.6305 CETP Bryony Thompson Mode of inheritance for gene: CETP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6304 CETP Bryony Thompson Classified gene: CETP as Amber List (moderate evidence)
Mendeliome v0.6304 CETP Bryony Thompson Added comment: Comment on list classification: Benign metabolic condition
Mendeliome v0.6304 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6303 CETP Bryony Thompson reviewed gene: CETP: Rating: ; Mode of pathogenicity: None; Publications: 12070157, 2586614, 27604308, 2215607, 2390095; Phenotypes: Hyperalphalipoproteinemia MIM#143470, Disorders of high density lipoprotein metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6303 DMGDH Bryony Thompson Mode of inheritance for gene: DMGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6302 DMGDH Bryony Thompson Classified gene: DMGDH as Amber List (moderate evidence)
Mendeliome v0.6302 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6301 DMGDH Bryony Thompson edited their review of gene: DMGDH: Changed rating: AMBER
Mendeliome v0.6301 DMGDH Bryony Thompson reviewed gene: DMGDH: Rating: ; Mode of pathogenicity: None; Publications: 11231903, 18937046, 28881522, 27604308; Phenotypes: Dimethylglycine dehydrogenase deficiency MIM#605850, Disorders and variants of other enzymes that oxidise xenobiotics; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6301 CD320 Bryony Thompson Marked gene: CD320 as ready
Mendeliome v0.6301 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6301 CD320 Bryony Thompson Phenotypes for gene: CD320 were changed from to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.6300 CD320 Bryony Thompson Publications for gene: CD320 were set to
Mendeliome v0.6299 CD320 Bryony Thompson Classified gene: CD320 as Amber List (moderate evidence)
Mendeliome v0.6299 CD320 Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Mendeliome v0.6299 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6298 CD320 Bryony Thompson reviewed gene: CD320: Rating: ; Mode of pathogenicity: None; Publications: 29663633, 27604308, 30303736; Phenotypes: Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6298 SHPK Bryony Thompson Marked gene: SHPK as ready
Mendeliome v0.6298 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6298 SHPK Bryony Thompson Classified gene: SHPK as Amber List (moderate evidence)
Mendeliome v0.6298 SHPK Bryony Thompson Added comment: Comment on list classification: Likely benign disorder
Mendeliome v0.6298 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6297 SHPK Bryony Thompson gene: SHPK was added
gene: SHPK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 25647543; 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213
Review for gene: SHPK was set to AMBER
Added comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder.
Sources: Literature
Mendeliome v0.6296 PNLIP Bryony Thompson Marked gene: PNLIP as ready
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6296 PNLIP Bryony Thompson Classified gene: PNLIP as Amber List (moderate evidence)
Mendeliome v0.6296 PNLIP Bryony Thompson Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6295 PNLIP Bryony Thompson gene: PNLIP was added
gene: PNLIP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308
Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism
Review for gene: PNLIP was set to GREEN
Added comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.
Sources: Literature
Mendeliome v0.6294 TDO2 Zornitza Stark Marked gene: TDO2 as ready
Mendeliome v0.6294 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
Mendeliome v0.6294 TDO2 Zornitza Stark gene: TDO2 was added
gene: TDO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDO2 were set to 28285122; 27604308
Phenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: TDO2 was set to RED
Added comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences
Sources: Expert list
Mendeliome v0.6293 SUGCT Zornitza Stark Marked gene: SUGCT as ready
Mendeliome v0.6293 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6293 SUGCT Zornitza Stark Phenotypes for gene: SUGCT were changed from to Glutaric aciduria III MIM#231690; Organic acidurias
Mendeliome v0.6292 SUGCT Zornitza Stark Publications for gene: SUGCT were set to
Mendeliome v0.6291 SUGCT Zornitza Stark Mode of inheritance for gene: SUGCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6290 SUGCT Zornitza Stark Classified gene: SUGCT as Amber List (moderate evidence)
Mendeliome v0.6290 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6289 SUGCT Zornitza Stark reviewed gene: SUGCT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28766179, 18926513, 33483254, 32779420, 27604308; Phenotypes: Glutaric aciduria III MIM#231690, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6289 SLC36A2 Zornitza Stark Marked gene: SLC36A2 as ready
Mendeliome v0.6289 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6289 SLC36A2 Zornitza Stark Phenotypes for gene: SLC36A2 were changed from to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport
Mendeliome v0.6288 SLC36A2 Zornitza Stark Publications for gene: SLC36A2 were set to
Mendeliome v0.6287 SLC36A2 Zornitza Stark Mode of inheritance for gene: SLC36A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6286 SLC36A2 Zornitza Stark Classified gene: SLC36A2 as Amber List (moderate evidence)
Mendeliome v0.6286 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6285 SLC36A2 Zornitza Stark reviewed gene: SLC36A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6285 SARDH Zornitza Stark Marked gene: SARDH as ready
Mendeliome v0.6285 SARDH Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6285 SARDH Zornitza Stark Phenotypes for gene: SARDH were changed from to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.6284 SARDH Zornitza Stark Publications for gene: SARDH were set to
Mendeliome v0.6283 SARDH Zornitza Stark Mode of inheritance for gene: SARDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6282 SARDH Zornitza Stark Classified gene: SARDH as Amber List (moderate evidence)
Mendeliome v0.6282 SARDH Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6281 SARDH Zornitza Stark reviewed gene: SARDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22825317, 27604308; Phenotypes: Sarcosinemia MIM#268900, Disorders of serine, glycine or glycerate metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6281 OPLAH Zornitza Stark Marked gene: OPLAH as ready
Mendeliome v0.6281 OPLAH Zornitza Stark Gene: oplah has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6281 OPLAH Zornitza Stark Phenotypes for gene: OPLAH were changed from to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Mendeliome v0.6280 OPLAH Zornitza Stark Publications for gene: OPLAH were set to
Mendeliome v0.6279 OPLAH Zornitza Stark Mode of inheritance for gene: OPLAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6278 OPLAH Zornitza Stark Classified gene: OPLAH as Amber List (moderate evidence)
Mendeliome v0.6278 OPLAH Zornitza Stark Gene: oplah has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6277 OPLAH Zornitza Stark Tag disputed tag was added to gene: OPLAH.
Mendeliome v0.6277 OPLAH Zornitza Stark reviewed gene: OPLAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 27477828; Phenotypes: 5-oxoprolinase deficiency MIM#260005, Disorders of the gamma-glutamyl cycle; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6277 KHK Zornitza Stark Marked gene: KHK as ready
Mendeliome v0.6277 KHK Zornitza Stark Gene: khk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6277 KHK Zornitza Stark Phenotypes for gene: KHK were changed from to Fructosuria MIM#229800; Disorders of fructose metabolism
Mendeliome v0.6276 KHK Zornitza Stark Publications for gene: KHK were set to
Mendeliome v0.6275 KHK Zornitza Stark Mode of inheritance for gene: KHK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6274 KHK Zornitza Stark Classified gene: KHK as Amber List (moderate evidence)
Mendeliome v0.6274 KHK Zornitza Stark Gene: khk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6273 KHK Zornitza Stark reviewed gene: KHK: Rating: AMBER; Mode of pathogenicity: None; Publications: 7833921, 27604308, 29870677; Phenotypes: Fructosuria MIM#229800, Disorders of fructose metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6273 HAL Zornitza Stark Marked gene: HAL as ready
Mendeliome v0.6273 HAL Zornitza Stark Gene: hal has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6273 HAL Zornitza Stark Phenotypes for gene: HAL were changed from to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism
Mendeliome v0.6272 HAL Zornitza Stark Publications for gene: HAL were set to
Mendeliome v0.6271 HAL Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6270 HAL Zornitza Stark Classified gene: HAL as Amber List (moderate evidence)
Mendeliome v0.6270 HAL Zornitza Stark Gene: hal has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6269 HAL Zornitza Stark reviewed gene: HAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 15806399, 20156889; Phenotypes: Histidinemia MIM#235800, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6269 GGT1 Zornitza Stark Phenotypes for gene: GGT1 were changed from ?Glutathioninuria 231950 to Glutathioninuria 231950
Mendeliome v0.6268 GGT1 Zornitza Stark Classified gene: GGT1 as Amber List (moderate evidence)
Mendeliome v0.6268 GGT1 Zornitza Stark Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6267 GGT1 Zornitza Stark reviewed gene: GGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6267 DCXR Zornitza Stark Marked gene: DCXR as ready
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6267 DCXR Zornitza Stark Classified gene: DCXR as Amber List (moderate evidence)
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6266 DCXR Zornitza Stark gene: DCXR was added
gene: DCXR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 22042873
Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism
Review for gene: DCXR was set to AMBER
Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign.
Sources: Expert list
Mendeliome v0.6265 CTH Zornitza Stark Marked gene: CTH as ready
Mendeliome v0.6265 CTH Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6265 CTH Zornitza Stark Phenotypes for gene: CTH were changed from to Cystathioninuria MIM#219500
Mendeliome v0.6264 CTH Zornitza Stark Publications for gene: CTH were set to
Mendeliome v0.6263 CTH Zornitza Stark Mode of inheritance for gene: CTH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6262 CTH Zornitza Stark Classified gene: CTH as Amber List (moderate evidence)
Mendeliome v0.6262 CTH Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6261 CTH Zornitza Stark reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: None; Publications: 12574942, 20584029, 24761004, 15151507; Phenotypes: Cystathioninuria MIM#219500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6261 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Mendeliome v0.6261 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6261 ACSF3 Zornitza Stark Phenotypes for gene: ACSF3 were changed from to Combined malonic and methylmalonic aciduria MIM#614265
Mendeliome v0.6260 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Mendeliome v0.6259 ACSF3 Zornitza Stark Mode of inheritance for gene: ACSF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6258 ACSF3 Zornitza Stark Classified gene: ACSF3 as Amber List (moderate evidence)
Mendeliome v0.6258 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6257 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6257 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Mendeliome v0.6257 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Mendeliome v0.6257 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Mendeliome v0.6256 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Mendeliome v0.6255 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6254 PHGDH Zornitza Stark reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6254 REC114 Zornitza Stark Phenotypes for gene: REC114 were changed from Female infertility to Female infertility; Oocyte maturation defect 10, MIM# 619176
Mendeliome v0.6253 REC114 Zornitza Stark reviewed gene: REC114: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte maturation defect 10, MIM# 619176; Mode of inheritance: None
Mendeliome v0.6253 PNP Zornitza Stark Marked gene: PNP as ready
Mendeliome v0.6253 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Mendeliome v0.6253 PNP Zornitza Stark Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Mendeliome v0.6252 PNP Zornitza Stark Publications for gene: PNP were set to
Mendeliome v0.6251 PNP Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6250 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 3029074, 1384322, 11453975, 32695102, 32514656; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6250 PNPLA2 Zornitza Stark Marked gene: PNPLA2 as ready
Mendeliome v0.6250 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Green List (High Evidence).
Mendeliome v0.6250 PNPLA2 Zornitza Stark Phenotypes for gene: PNPLA2 were changed from to Neutral lipid storage disease with myopathy MIM#610717
Mendeliome v0.6249 PNPLA2 Zornitza Stark Publications for gene: PNPLA2 were set to
Mendeliome v0.6248 PNPLA2 Zornitza Stark Mode of inheritance for gene: PNPLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6247 PNPLA2 Zornitza Stark reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 25287355, 25956450, 21544567; Phenotypes: Neutral lipid storage disease with myopathy MIM#610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6247 RPIA Zornitza Stark reviewed gene: RPIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14988808, 31056085, 31247379; Phenotypes: Ribose 5-phosphate isomerase deficiency, MIM# 608611, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6247 ESRP2 Zornitza Stark Marked gene: ESRP2 as ready
Mendeliome v0.6247 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6247 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from to Cleft lip
Mendeliome v0.6246 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to
Mendeliome v0.6245 ESRP2 Zornitza Stark Mode of inheritance for gene: ESRP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6244 ESRP2 Zornitza Stark Classified gene: ESRP2 as Amber List (moderate evidence)
Mendeliome v0.6244 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6243 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6243 ACBD5 Zornitza Stark Marked gene: ACBD5 as ready
Mendeliome v0.6243 ACBD5 Zornitza Stark Gene: acbd5 has been classified as Green List (High Evidence).
Mendeliome v0.6243 ACBD5 Zornitza Stark Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, MIM# 618863
Mendeliome v0.6242 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to
Mendeliome v0.6241 ACBD5 Zornitza Stark Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6240 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6240 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Mendeliome v0.6240 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Mendeliome v0.6240 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from to Chylomicron retention disease, MIM# 246700
Mendeliome v0.6239 SAR1B Zornitza Stark Publications for gene: SAR1B were set to
Mendeliome v0.6238 SAR1B Zornitza Stark Mode of inheritance for gene: SAR1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6237 SAR1B Zornitza Stark reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552; Phenotypes: Chylomicron retention disease, MIM# 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6237 SC5D Zornitza Stark Marked gene: SC5D as ready
Mendeliome v0.6237 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Mendeliome v0.6237 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from to Lathosterolosis, MIM# 607330
Mendeliome v0.6236 SC5D Zornitza Stark Publications for gene: SC5D were set to
Mendeliome v0.6235 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6234 SC5D Zornitza Stark reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6234 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Mendeliome v0.6234 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Mendeliome v0.6234 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2, MIM# 617013
Mendeliome v0.6233 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Mendeliome v0.6232 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6231 SLC39A14 Zornitza Stark reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 29685658; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6231 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Mendeliome v0.6231 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Mendeliome v0.6231 SLC46A1 Zornitza Stark Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary, MIM# 229050
Mendeliome v0.6230 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Mendeliome v0.6229 SLC46A1 Zornitza Stark Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6228 SLC46A1 Zornitza Stark changed review comment from: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.; to: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhoea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.
Mendeliome v0.6228 SLC46A1 Zornitza Stark reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17446347, 17129779, 21333572; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Green List (High Evidence).
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090
Mendeliome v0.6227 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Mendeliome v0.6226 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6225 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23252400, 21907012, 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6225 DDX58 Zornitza Stark edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6225 DDX58 Zornitza Stark edited their review of gene: DDX58: Changed publications: 25620203, 30574673, 33495304
Mendeliome v0.6225 DDX58 Zornitza Stark Publications for gene: DDX58 were set to 25620203; 33495304
Mendeliome v0.6224 DDX58 Zornitza Stark Mode of pathogenicity for gene: DDX58 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6223 DDX58 Zornitza Stark Publications for gene: DDX58 were set to 25620203
Mendeliome v0.6222 DDX58 Zornitza Stark Mode of pathogenicity for gene: DDX58 was changed from to Other
Mendeliome v0.6221 DDX58 Zornitza Stark edited their review of gene: DDX58: Added comment: Prasov et al. 2021 (PMID: 33495304) - A heterozygous DDX58 variant (c.1529A>T) was identified in 5 individuals from 2 unrelated families from different ethnic backgrounds. Phenotypes varied with some being severely affected by systemic features and others solely with glaucoma.Functional analysis demonstrated the variant confers a dominant gain-of-function effect on interferon activity.; Changed mode of pathogenicity: Other; Changed publications: 25620203, 33495304
Mendeliome v0.6221 KL Bryony Thompson Marked gene: KL as ready
Mendeliome v0.6221 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6221 KL Bryony Thompson Publications for gene: KL were set to
Mendeliome v0.6220 KL Bryony Thompson Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia
Mendeliome v0.6219 KL Bryony Thompson Classified gene: KL as Amber List (moderate evidence)
Mendeliome v0.6219 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6218 KL Bryony Thompson reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: None
Mendeliome v0.6218 GLRX2 Bryony Thompson Marked gene: GLRX2 as ready
Mendeliome v0.6218 GLRX2 Bryony Thompson Gene: glrx2 has been classified as Red List (Low Evidence).
Mendeliome v0.6218 GLRX2 Bryony Thompson Classified gene: GLRX2 as Red List (low evidence)
Mendeliome v0.6218 GLRX2 Bryony Thompson Gene: glrx2 has been classified as Red List (Low Evidence).
Mendeliome v0.6217 GLRX2 Bryony Thompson reviewed gene: GLRX2: Rating: RED; Mode of pathogenicity: None; Publications: 25362663; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6217 GLRX3 Bryony Thompson Classified gene: GLRX3 as Red List (low evidence)
Mendeliome v0.6217 GLRX3 Bryony Thompson Gene: glrx3 has been classified as Red List (Low Evidence).
Mendeliome v0.6216 GLRX3 Bryony Thompson reviewed gene: GLRX3: Rating: RED; Mode of pathogenicity: None; Publications: 23615448; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6216 GSTO2 Bryony Thompson Marked gene: GSTO2 as ready
Mendeliome v0.6216 GSTO2 Bryony Thompson Gene: gsto2 has been classified as Red List (Low Evidence).
Mendeliome v0.6216 GSTO2 Bryony Thompson Classified gene: GSTO2 as Red List (low evidence)
Mendeliome v0.6216 GSTO2 Bryony Thompson Gene: gsto2 has been classified as Red List (Low Evidence).
Mendeliome v0.6215 GSTO2 Bryony Thompson reviewed gene: GSTO2: Rating: RED; Mode of pathogenicity: None; Publications: 12618591; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6215 SIX1 Zornitza Stark changed review comment from: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.; to: Deafness/BOS: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.
Mendeliome v0.6215 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389 to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389; Sagittal synostosis; Multi-suture synostosis
Mendeliome v0.6214 SIX1 Zornitza Stark Publications for gene: SIX1 were set to 15141091; 18330911; 21254961; 17637804; 29500469; 21700001; 24164807
Mendeliome v0.6213 BMP7 Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Mendeliome v0.6212 BMP7 Zornitza Stark Publications for gene: BMP7 were set to 32266521; 24429398
Mendeliome v0.6211 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed publications: 32266521, 24429398, 33434492
Mendeliome v0.6211 BMP7 Zornitza Stark changed review comment from: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis

CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT.
Sources: Literature; to: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis

CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT.
Sources: Literature

PMID 33434492: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS.
Mendeliome v0.6211 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Mendeliome v0.6211 BMP7 Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.6210 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.6210 SIX1 Arina Puzriakova reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33436522; Phenotypes: Sagittal synostosis, Multi-suture synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6210 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Mendeliome v0.6210 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Mendeliome v0.6210 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Mendeliome v0.6210 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Mendeliome v0.6209 PRUNE1 Zornitza Stark Publications for gene: PRUNE1 were set to 26539891; 28334956
Mendeliome v0.6208 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Mendeliome v0.6208 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6208 CLRN2 Zornitza Stark Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM# 619174
Mendeliome v0.6207 EGFR Eleanor Williams changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Mendeliome v0.6207 EGFR Eleanor Williams reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: 33326033; Phenotypes: Adrenocortical carcinoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6207 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Mendeliome v0.6207 PRUNE1 Eleanor Williams reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6207 TTF2 Zornitza Stark Marked gene: TTF2 as ready
Mendeliome v0.6207 TTF2 Zornitza Stark Gene: ttf2 has been classified as Red List (Low Evidence).
Mendeliome v0.6207 TTF2 Zornitza Stark gene: TTF2 was added
gene: TTF2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF2 were set to 30022773
Phenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF2 was set to RED
Added comment: 1 case only
Sources: Expert Review
Mendeliome v0.6206 DUOXA1 Zornitza Stark Marked gene: DUOXA1 as ready
Mendeliome v0.6206 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6206 DUOXA1 Zornitza Stark Classified gene: DUOXA1 as Amber List (moderate evidence)
Mendeliome v0.6206 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6205 DUOXA1 Zornitza Stark gene: DUOXA1 was added
gene: DUOXA1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: 12 cases, but digenic model with variants in other genes
Sources: Expert Review
Mendeliome v0.6204 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6204 DUOX1 Zornitza Stark Classified gene: DUOX1 as Amber List (moderate evidence)
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6203 DUOX1 Zornitza Stark gene: DUOX1 was added
gene: DUOX1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to 29650690
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOX1 was set to AMBER
Added comment: 11 cases, but digenic model, with variants in other genes.
Sources: Expert Review
Mendeliome v0.6202 TTF1 Zornitza Stark Marked gene: TTF1 as ready
Mendeliome v0.6202 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6202 TTF1 Zornitza Stark Phenotypes for gene: TTF1 were changed from to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Mendeliome v0.6201 TTF1 Zornitza Stark Publications for gene: TTF1 were set to
Mendeliome v0.6200 TTF1 Zornitza Stark Mode of inheritance for gene: TTF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6199 TTF1 Zornitza Stark Classified gene: TTF1 as Amber List (moderate evidence)
Mendeliome v0.6199 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6198 TTF1 Zornitza Stark reviewed gene: TTF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30022773; Phenotypes: congenital hypothyroidism, thyroid dysgenesis, No OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6198 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Mendeliome v0.6198 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Mendeliome v0.6198 CDCA8 Zornitza Stark Classified gene: CDCA8 as Green List (high evidence)
Mendeliome v0.6198 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Mendeliome v0.6197 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
Mode of pathogenicity for gene: CDCA8 was set to Other
Review for gene: CDCA8 was set to GREEN
Added comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic.
Sources: Expert Review
Mendeliome v0.6196 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Mendeliome v0.6196 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mendeliome v0.6196 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Mendeliome v0.6196 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mendeliome v0.6195 DNAJC30 Zornitza Stark gene: DNAJC30 was added
gene: DNAJC30 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence.
Sources: Literature
Mendeliome v0.6194 NFS1 Zornitza Stark Classified gene: NFS1 as Green List (high evidence)
Mendeliome v0.6194 NFS1 Zornitza Stark Gene: nfs1 has been classified as Green List (High Evidence).
Mendeliome v0.6193 NFS1 Zornitza Stark edited their review of gene: NFS1: Added comment: Second paper reporting another family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications: 24498631, 33457206
Mendeliome v0.6193 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Mendeliome v0.6192 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other
Mendeliome v0.6192 SLC7A6OS Zornitza Stark Marked gene: SLC7A6OS as ready
Mendeliome v0.6192 SLC7A6OS Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence).
Mendeliome v0.6192 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Mendeliome v0.6191 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Mendeliome v0.6191 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Mendeliome v0.6191 TLR8 Zornitza Stark Tag somatic tag was added to gene: TLR8.
Mendeliome v0.6191 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Mendeliome v0.6191 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Mendeliome v0.6190 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Mendeliome v0.6189 PIGF Zornitza Stark Marked gene: PIGF as ready
Mendeliome v0.6189 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Mendeliome v0.6189 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Mendeliome v0.6189 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Mendeliome v0.6188 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Mendeliome v0.6188 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Mendeliome v0.6188 BRWD1 Zornitza Stark Classified gene: BRWD1 as Green List (high evidence)
Mendeliome v0.6188 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness - only one of the two had seizures (GTCS), the other was 14mo and noted to have tonic posturing.

Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated by flow cytometry and a rescue assay. Alkaline phosphatase in both individuals was normal.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio edited their review of gene: PIGF: Changed phenotypes: Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: Identified in 2 individuals with a phenotype similar to DOORS (syndrome
Sources: Literature; to: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio gene: PIGF was added
gene: PIGF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol\ deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
gene: PIGF was marked as current diagnostic
Added comment: Identified in 2 individuals with a phenotype similar to DOORS (syndrome
Sources: Literature
Mendeliome v0.6187 BRWD1 Paul De Fazio gene: BRWD1 was added
gene: BRWD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Asthenoteratozoospermia, likely primary ciliary dyskinesia
Review for gene: BRWD1 was set to GREEN
gene: BRWD1 was marked as current diagnostic
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-likely" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).

Rated Green as there are three unrelated individuals reported.
Sources: Literature
Mendeliome v0.6187 HIRA Zornitza Stark Marked gene: HIRA as ready
Mendeliome v0.6187 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Mendeliome v0.6187 HIRA Zornitza Stark Classified gene: HIRA as Green List (high evidence)
Mendeliome v0.6187 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Mendeliome v0.6186 EYA3 Zornitza Stark Marked gene: EYA3 as ready
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Mendeliome v0.6186 EYA3 Zornitza Stark Classified gene: EYA3 as Red List (low evidence)
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Mendeliome v0.6185 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Mendeliome v0.6185 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6184 HIRA Paul De Fazio gene: HIRA was added
gene: HIRA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 28135719; 25363760
Phenotypes for gene: HIRA were set to Neurodevelopmental disorder
Review for gene: HIRA was set to GREEN
gene: HIRA was marked as current diagnostic
Added comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:

Individual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.
Individual 2: canonical splice variant, phenotype mostly confined to ASD

Another two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).

PMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.

Rated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region.
Sources: Literature
Mendeliome v0.6184 POLR3B Zornitza Stark changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy.
Mendeliome v0.6184 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Mendeliome v0.6184 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Mendeliome v0.6184 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Mendeliome v0.6183 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Mendeliome v0.6182 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6181 CFAP47 Zornitza Stark edited their review of gene: CFAP47: Changed rating: GREEN
Mendeliome v0.6181 CFAP47 Zornitza Stark Marked gene: CFAP47 as ready
Mendeliome v0.6181 CFAP47 Zornitza Stark Added comment: Comment when marking as ready: 3-4 unrelated individuals and animal model.
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Mendeliome v0.6181 CFAP47 Zornitza Stark Classified gene: CFAP47 as Green List (high evidence)
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Classified gene: C14orf39 as Green List (high evidence)
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6179 EYA3 Paul De Fazio gene: EYA3 was added
gene: EYA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EYA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EYA3 were set to 33475861
Phenotypes for gene: EYA3 were set to Oculo-auriculo-vertebral spectrum (OAVS)
Review for gene: EYA3 was set to RED
gene: EYA3 was marked as current diagnostic
Added comment: 3 individuals with OAVS from two unrelated families with the same missense variant, p.(Asn358Ser). Variant has 20 heterozygotes in gnomAD. Unaffected carriers in both families were also identified - unknown if incomplete penetrance or nonsegregation.

Functional studies indicate the variant increases protein half life, and gene knockdown in zebrafish had an effect on craniofacial development.

Rated Red due to both families sharing the variant and uncertainty about incomplete penetrance versus nonsegregation.
Sources: Literature
Mendeliome v0.6179 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Mendeliome v0.6179 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Mendeliome v0.6178 HEY2 Zornitza Stark gene: HEY2 was added
gene: HEY2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Mendeliome v0.6177 FGF9 Zornitza Stark edited their review of gene: FGF9: Changed phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis
Mendeliome v0.6177 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Mendeliome v0.6177 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Mendeliome v0.6177 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis
Mendeliome v0.6176 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Mendeliome v0.6175 FGF9 Zornitza Stark Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6174 FGF9 Zornitza Stark reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6174 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Mendeliome v0.6174 OTUD5 Zornitza Stark Gene: otud5 has been classified as Red List (Low Evidence).
Mendeliome v0.6174 OTUD5 Zornitza Stark gene: OTUD5 was added
gene: OTUD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077
Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality
Review for gene: OTUD5 was set to RED
Added comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Mendeliome v0.6173 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6173 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6172 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Mendeliome v0.6172 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 14755340, 25653144, 31177572
Mendeliome v0.6172 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Mendeliome v0.6171 CLRN2 Paul De Fazio gene: CLRN2 was added
gene: CLRN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
gene: CLRN2 was marked as current diagnostic
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.

Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.

Rated Amber due to supporting functional studies in mice.
Sources: Literature
Mendeliome v0.6171 POLR3B Elena Savva reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33417887, 22036171, 22036172; Phenotypes: Ataxia, spasticity, and demyelinating neuropathy, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6171 CFAP47 Hazel Phillimore gene: CFAP47 was added
gene: CFAP47 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP47 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: CFAP47 were set to PMID: 33472045
Phenotypes for gene: CFAP47 were set to asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)
Review for gene: CFAP47 was set to AMBER
Added comment: CFAP47 also known as CXorf22. 3 different missense variants in 3 unrelated Chinese individuals with asthenoteratozoospermia associated with morphological abnormalities of the flagella (MMAF). Immunoblotting and immunofluorescence showed reduced levels of CFAP47 in spermatozoa in all 3 men. A separate asthenoteratozoospermia cohort showed 1 individual with CNV including whole gene deletion of CFAP47.
Mouse model (with frameshift variants generated (via CRISPR-Cas9 technology) were sterile and presented with reduced sperm motility and abnormal flagellar morphology.
Sources: Literature
Mendeliome v0.6171 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Azoospermia; Premature ovarian insufficiency
Review for gene: C14orf39 was set to GREEN
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency)
- 2 unrelated Chinese males with azoospermia
All patients had either homozygous PTCs or splice

PMID: 27796301
Mouse K/O had azoospermia and ovarian failure
Sources: Literature
Mendeliome v0.6171 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6170 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Mendeliome v0.6170 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6170 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures
Mendeliome v0.6169 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Mendeliome v0.6169 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Mendeliome v0.6168 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Mendeliome v0.6168 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6167 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Mendeliome v0.6167 METAP1 Zornitza Stark Marked gene: METAP1 as ready
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6167 METAP1 Zornitza Stark Classified gene: METAP1 as Red List (low evidence)
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6166 SATB1 Elena Savva reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6166 METAP1 Paul De Fazio gene: METAP1 was added
gene: METAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METAP1 were set to PMID: 32764695
Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay
Review for gene: METAP1 was set to RED
gene: METAP1 was marked as current diagnostic
Added comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Mendeliome v0.6166 MYADML2 Zornitza Stark Marked gene: MYADML2 as ready
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6166 MYADML2 Zornitza Stark Classified gene: MYADML2 as Red List (low evidence)
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 MYADML2 Zornitza Stark Tag SV/CNV tag was added to gene: MYADML2.
Mendeliome v0.6165 CCDC186 Zornitza Stark Marked gene: CCDC186 as ready
Mendeliome v0.6165 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146
Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy
Review for gene: CCDC186 was set to RED
Added comment: One individual reported with bi-allelic truncating variant and EE.
Sources: Literature
Mendeliome v0.6164 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Mendeliome v0.6164 MYADML2 Paul De Fazio gene: MYADML2 was added
gene: MYADML2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYADML2 were set to 32778762
Phenotypes for gene: MYADML2 were set to Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
Review for gene: MYADML2 was set to RED
gene: MYADML2 was marked as current diagnostic
Added comment: 5 sibs from a consanguineous family identified to have biallelic deletion encompassing part of the PYCR1 gene and the coding region of the MYADML2 gene.

According to the authors: "All five affected sibs had the most common features of ARCL (autosomal recessive cutis laxa) but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found."

Phenotype may still be explained by the PYCR1 deletion alone.
Sources: Literature
Mendeliome v0.6164 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Mendeliome v0.6163 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6163 HYAL2 Zornitza Stark Classified gene: HYAL2 as Amber List (moderate evidence)
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6162 HYAL2 Zornitza Stark gene: HYAL2 was added
gene: HYAL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Literature
Mendeliome v0.6161 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Mendeliome v0.6161 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Mendeliome v0.6161 SLC6A20 Zornitza Stark Phenotypes for gene: SLC6A20 were changed from to Hyperglycinuria, MIM# 138500
Mendeliome v0.6160 SLC6A20 Zornitza Stark Publications for gene: SLC6A20 were set to
Mendeliome v0.6159 SLC6A20 Zornitza Stark Mode of inheritance for gene: SLC6A20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6158 SLC6A20 Zornitza Stark reviewed gene: SLC6A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24816252, 19033659; Phenotypes: Hyperglycinuria, MIM# 138500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6158 SUOX Zornitza Stark Marked gene: SUOX as ready
Mendeliome v0.6158 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Mendeliome v0.6158 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Mendeliome v0.6157 SUOX Zornitza Stark Publications for gene: SUOX were set to
Mendeliome v0.6156 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6155 SUOX Zornitza Stark reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9428520, 15952210, 31127934; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6155 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6154 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Mendeliome v0.6153 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Mendeliome v0.6153 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6153 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.6152 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.6152 NOS1AP Zornitza Stark Phenotypes for gene: NOS1AP were changed from to Nephrotic syndrome, type 22, MIM# 619155
Mendeliome v0.6151 NOS1AP Zornitza Stark Mode of inheritance for gene: NOS1AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6150 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Mendeliome v0.6150 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Mendeliome v0.6149 NOS1AP Zornitza Stark Deleted their comment
Mendeliome v0.6149 NOS1AP Zornitza Stark edited their review of gene: NOS1AP: Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant.

Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386; Changed rating: GREEN; Changed phenotypes: Nephrotic syndrome, type 22, MIM# 619155; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6149 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Mendeliome v0.6148 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Mendeliome v0.6148 DCT Zornitza Stark Marked gene: DCT as ready
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6148 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6147 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Expert list
Mendeliome v0.6146 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mendeliome v0.6146 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mendeliome v0.6146 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mendeliome v0.6145 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mendeliome v0.6144 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, MIM#619172
Mendeliome v0.6142 BLOC1S5 Zornitza Stark edited their review of gene: BLOC1S5: Changed phenotypes: Hermansky–Pudlak syndrome 11, MIM#619172
Mendeliome v0.6142 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6142 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6141 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome. Two unrelated families reported, some functional data.
Sources: Expert list
Mendeliome v0.6140 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Mendeliome v0.6140 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Mendeliome v0.6140 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, MIM# 613161
Mendeliome v0.6139 UPB1 Zornitza Stark Publications for gene: UPB1 were set to
Mendeliome v0.6138 UPB1 Zornitza Stark Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UPB1 Zornitza Stark reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Mendeliome v0.6137 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6137 UROC1 Zornitza Stark Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880
Mendeliome v0.6136 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Mendeliome v0.6135 UROC1 Zornitza Stark Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6134 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Mendeliome v0.6134 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6133 UROC1 Zornitza Stark reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6133 DLX4 Zornitza Stark Marked gene: DLX4 as ready
Mendeliome v0.6133 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6133 DLX4 Zornitza Stark gene: DLX4 was added
gene: DLX4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX4 were set to 25954033; 29738288
Phenotypes for gene: DLX4 were set to Orofacial cleft 15, MIM# 616788
Review for gene: DLX4 was set to RED
Added comment: Single family reported and a SNP association study.
Sources: Expert list
Mendeliome v0.6132 DLG1 Zornitza Stark Marked gene: DLG1 as ready
Mendeliome v0.6132 DLG1 Zornitza Stark Gene: dlg1 has been classified as Red List (Low Evidence).
Mendeliome v0.6132 DLG1 Zornitza Stark gene: DLG1 was added
gene: DLG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLG1 were set to 28926086
Phenotypes for gene: DLG1 were set to Non-syndromic cleft lip and palate
Review for gene: DLG1 was set to RED
Added comment: GWAS study PMID: 28926086 found genome-wide significance for several SNPs within this gene, identifying it as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Sources: Expert list
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from to Cleft lip and palate
Mendeliome v0.6130 PLEKHA7 Zornitza Stark Publications for gene: PLEKHA7 were set to
Mendeliome v0.6129 PLEKHA7 Zornitza Stark Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Classified gene: PLEKHA7 as Amber List (moderate evidence)
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6127 PLEKHA7 Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6127 ALMS1 Elena Savva reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17594715; Phenotypes: Alstrom syndrome MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6127 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Mendeliome v0.6127 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Mendeliome v0.6127 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)
Mendeliome v0.6126 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Mendeliome v0.6125 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6124 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6124 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Mendeliome v0.6123 HNRNPU Elena Savva reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Developmental and epileptic encephalopathy 54 MIM# 617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6123 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Mendeliome v0.6123 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Mendeliome v0.6123 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Mendeliome v0.6122 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Mendeliome v0.6121 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Mendeliome v0.6120 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6119 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6119 FOXF1 Zornitza Stark changed review comment from: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.; to: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported.
Mendeliome v0.6119 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Mendeliome v0.6119 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Mendeliome v0.6119 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Mendeliome v0.6118 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Mendeliome v0.6117 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Kristin Rigbye reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23505205, 27071622, 27855150; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins (MIM#265380), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6116 STEAP3 Zornitza Stark Marked gene: STEAP3 as ready
Mendeliome v0.6116 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6116 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from to Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234
Mendeliome v0.6115 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to
Mendeliome v0.6114 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6113 STEAP3 Zornitza Stark Classified gene: STEAP3 as Amber List (moderate evidence)
Mendeliome v0.6113 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6112 STEAP3 Zornitza Stark reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22031863, 25515317; Phenotypes: Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6112 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Mendeliome v0.6112 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Mendeliome v0.6112 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to Hemochromatosis, type 5, MIM# 615517
Review for gene: FTH1 was set to RED
Added comment: One multi-generational family with 5' UTR variant.
Sources: Expert list
Mendeliome v0.6111 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Mendeliome v0.6111 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6111 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYBRD1 were set to 15338274
Phenotypes for gene: CYBRD1 were set to Iron overload
Review for gene: CYBRD1 was set to RED
Added comment: Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad.
Sources: Expert list
Mendeliome v0.6110 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6110 BMP6 Zornitza Stark Classified gene: BMP6 as Green List (high evidence)
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6109 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP6 were set to 26582087; 32464486
Phenotypes for gene: BMP6 were set to Iron overload, mild to moderate
Review for gene: BMP6 was set to GREEN
Added comment: More than 9 individuals reported with iron overload and variants in this gene.
Sources: Expert list
Mendeliome v0.6108 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Mendeliome v0.6108 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6107 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694
Phenotypes for gene: CREB3L3 were set to Hyperlipidaemia; hypertriglyceridemia
Review for gene: CREB3L3 was set to AMBER
Added comment: PMID: 26427795 - a loss of function variant (c.359delG p.K120fsX20) was identified in 2 affected adult siblings and a 13 yo normotriglyceridemic daughter of one of the siblings.
PMID: 21666694 - Lipoprotein profiles of the families of 4 individuals with CREB3L3 nonsense mutations showed a significantly elevated mean plasma TG level in 11 mutation carriers compared with 5 non-carrier first-degree relatives (9.67 ± 4.70 vs. 1.66 ± 0.55 mM, P = 0.021, Wilcoxon test). 3 of those families have the same variant - Lys245GlufsTer130, which has 126 (281,946 alleles) hets in gnomAD v2.1.
PMID: 32580631 - case-control analysis of nonmonogenic severe hypertriglyceridemia cases (N=265) vs normolipidemic controls (N=477), identified 5 cases with LoF variants (3 of whom had the Lys245GlufsTer130 frameshift) and none in controls. OR 20.2 (95% CI 1.11–366.1) p = 0.002, adjusted p = 0.03.
The frequency of Lys245GlufsTer130 is higher than expected for a dominant disorder, but other loss of function variants have been identified. The gene may be associated with variable penetrance. There are multiple supporting null mouse models with hyperlipidaemia.
Sources: Expert list
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Marked gene: GPIHBP1 as ready
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Classified gene: GPIHBP1 as Green List (high evidence)
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6105 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPIHBP1 were set to 17883852; 19304573; 20026666; 17403372
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome
Review for gene: GPIHBP1 was set to GREEN
gene: GPIHBP1 was marked as current diagnostic
Added comment: Well-established cause of familial chylomicronemia (see OMIM). Greater than 3 families reported and a supporting mouse model.
Sources: Expert list
Mendeliome v0.6104 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Mendeliome v0.6103 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Mendeliome v0.6103 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Mendeliome v0.6103 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Mendeliome v0.6102 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Mendeliome v0.6101 ZMYND15 Bryony Thompson Marked gene: ZMYND15 as ready
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Mendeliome v0.6101 ZMYND15 Bryony Thompson Classified gene: ZMYND15 as Green List (high evidence)
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Mendeliome v0.6100 ZMYND15 Bryony Thompson gene: ZMYND15 was added
gene: ZMYND15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZMYND15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMYND15 were set to 24431330; 33169450; 20675388
Phenotypes for gene: ZMYND15 were set to Severe oligozoospermia
Review for gene: ZMYND15 was set to GREEN
Added comment: 4 unrelated consanguineous cases with homozygous loss of function variants. Zmynd15-null male mice display reduced testis weight and azoospermia
Sources: Literature
Mendeliome v0.6099 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Mendeliome v0.6099 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Mendeliome v0.6099 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Mendeliome v0.6098 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Mendeliome v0.6097 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6096 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6096 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6096 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6095 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Mendeliome v0.6094 LOR Zornitza Stark Marked gene: LOR as ready
Mendeliome v0.6094 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Mendeliome v0.6094 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Mendeliome v0.6093 LOR Zornitza Stark Publications for gene: LOR were set to
Mendeliome v0.6092 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Mendeliome v0.6091 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Mendeliome v0.6091 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Mendeliome v0.6090 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Mendeliome v0.6089 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Mendeliome v0.6088 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Mendeliome v0.6088 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Mendeliome v0.6087 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Mendeliome v0.6086 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 ALOX12B Zornitza Stark Deleted their comment
Mendeliome v0.6085 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Mendeliome v0.6085 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Mendeliome v0.6085 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Mendeliome v0.6084 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Mendeliome v0.6083 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALOX12B Zornitza Stark commented on gene: ALOX12B: Well established gene-disease association.
Mendeliome v0.6082 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Mendeliome v0.6082 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Mendeliome v0.6082 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760
Mendeliome v0.6081 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Mendeliome v0.6080 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6079 ALX3 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype.
Sources: Expert list; to: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.6079 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Mendeliome v0.6079 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Mendeliome v0.6079 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Mendeliome v0.6078 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Mendeliome v0.6077 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6076 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6076 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Mendeliome v0.6076 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Mendeliome v0.6076 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Mendeliome v0.6075 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Mendeliome v0.6074 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6073 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6073 EED Zornitza Stark Marked gene: EED as ready
Mendeliome v0.6073 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Mendeliome v0.6073 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Mendeliome v0.6072 EED Zornitza Stark Publications for gene: EED were set to
Mendeliome v0.6071 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Mendeliome v0.6070 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Mendeliome v0.6070 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant 160800; Myotonia congenita, recessive 255700
Mendeliome v0.6069 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Mendeliome v0.6068 CLCN1 Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6067 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6067 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Mendeliome v0.6067 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Mendeliome v0.6067 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Mendeliome v0.6066 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Mendeliome v0.6065 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Mendeliome v0.6064 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Mendeliome v0.6064 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638
Mendeliome v0.6063 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Mendeliome v0.6062 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778, 20074521; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039, Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Mendeliome v0.6061 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Mendeliome v0.6061 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Mendeliome v0.6060 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Mendeliome v0.6059 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB Zornitza Stark Marked gene: TUBB as ready
Mendeliome v0.6058 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Mendeliome v0.6058 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Mendeliome v0.6057 TUBB Zornitza Stark Publications for gene: TUBB were set to
Mendeliome v0.6056 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6055 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6055 FZD4 Zornitza Stark Marked gene: FZD4 as ready
Mendeliome v0.6055 FZD4 Zornitza Stark Gene: fzd4 has been classified as Green List (High Evidence).
Mendeliome v0.6055 FZD4 Zornitza Stark Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780
Mendeliome v0.6054 FZD4 Zornitza Stark Publications for gene: FZD4 were set to
Mendeliome v0.6053 FZD4 Zornitza Stark Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6052 FZD4 Zornitza Stark reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6052 TSPAN12 Zornitza Stark Marked gene: TSPAN12 as ready
Mendeliome v0.6052 TSPAN12 Zornitza Stark Gene: tspan12 has been classified as Green List (High Evidence).
Mendeliome v0.6052 TSPAN12 Zornitza Stark Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310
Mendeliome v0.6051 TSPAN12 Zornitza Stark Publications for gene: TSPAN12 were set to
Mendeliome v0.6050 TSPAN12 Zornitza Stark Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 TSPAN12 Zornitza Stark reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Mendeliome v0.6049 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Mendeliome v0.6049 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355
Mendeliome v0.6048 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Mendeliome v0.6047 PPP2R5D Zornitza Stark Mode of pathogenicity for gene: PPP2R5D was changed from to Other
Mendeliome v0.6046 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6045 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Mendeliome v0.6045 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Mendeliome v0.6045 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170
Mendeliome v0.6044 KAT6B Zornitza Stark Publications for gene: KAT6B were set to
Mendeliome v0.6043 KAT6B Zornitza Stark Mode of pathogenicity for gene: KAT6B was changed from to Other
Mendeliome v0.6042 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6041 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Mendeliome v0.6041 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Mendeliome v0.6041 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Mendeliome v0.6040 DVL1 Zornitza Stark Publications for gene: DVL1 were set to
Mendeliome v0.6039 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6038 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Marked gene: ZFP36L1 as ready
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Classified gene: ZFP36L1 as Red List (low evidence)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Mendeliome v0.6036 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to 31439720
Mendeliome v0.6035 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed publications: 31439720, 33390987
Mendeliome v0.6035 TSPYL1 Zornitza Stark Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Mendeliome v0.6034 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to 15273283; 19463995; 22137496; 25449952; 16418600
Mendeliome v0.6033 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Mendeliome v0.6033 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Mendeliome v0.6032 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Mendeliome v0.6031 ZNF526 Zornitza Stark Publications for gene: ZNF526 were set to
Mendeliome v0.6030 ZNF526 Zornitza Stark Mode of inheritance for gene: ZNF526 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6029 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Mendeliome v0.6029 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Mendeliome v0.6028 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mendeliome v0.6027 CYLD Zornitza Stark reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6027 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Mendeliome v0.6026 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Mendeliome v0.6026 PPP2R5D Elena Savva reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6026 KAT6B Elena Savva reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22715153, 32424177; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.6026 DVL1 Kristin Rigbye reviewed gene: DVL1: 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: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6026 ZFP36L1 Sebastian Lunke reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6026 TSPYL1 Eleanor Williams reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6026 ZNF526 Arina Puzriakova reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25558065, 33397746; Phenotypes: Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6026 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6026 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Mendeliome v0.6025 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000
Mendeliome v0.6024 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Mendeliome v0.6023 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed publications: 26563427, 24172246, 17314340
Mendeliome v0.6022 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mendeliome v0.6022 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mendeliome v0.6022 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5 MIM#611719; Ovarian dysgenesis 7 MIM#618117
Mendeliome v0.6021 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mendeliome v0.6020 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6019 KRT10 Elena Savva reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26176760, 20798280, 31638346, 18219278, 16505000; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis with confetti, MIM#609165, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 BRPF1 Elena Savva reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32652122, 27939640; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis MIM#617333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6019 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6019 BCS1L Elena Savva reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17314340; Phenotypes: Bjornstad syndrome MIM#262000, GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type MIM#1124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 MRPS22 Elena Savva reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6019 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6019 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6018 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Mendeliome v0.6017 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6017 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6016 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay.

The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.6015 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Mendeliome v0.6015 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Mendeliome v0.6014 SCUBE3 Zornitza Stark changed review comment from: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature; to: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.6014 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature
Mendeliome v0.6013 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6013 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6012 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Mendeliome v0.6011 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Mendeliome v0.6011 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6011 RNU7-1 Zornitza Stark Phenotypes for gene: RNU7-1 were changed from PMID: 33230297 to Aicardi–Goutières syndrome-like
Mendeliome v0.6010 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Mendeliome v0.6010 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6009 RABL2A Zornitza Stark Marked gene: RABL2A as ready
Mendeliome v0.6009 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6009 RABL2A Zornitza Stark Publications for gene: RABL2A were set to 33075816
Mendeliome v0.6008 RABL2A Zornitza Stark Mode of inheritance for gene: RABL2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6007 RABL2A Zornitza Stark Classified gene: RABL2A as Red List (low evidence)
Mendeliome v0.6007 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6006 RABL2A Zornitza Stark reviewed gene: RABL2A: Rating: RED; Mode of pathogenicity: None; Publications: 24825419; Phenotypes: Male infertility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6006 AKT1 Zornitza Stark Classified gene: AKT1 as Green List (high evidence)
Mendeliome v0.6006 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Mendeliome v0.6005 AKT1 Zornitza Stark reviewed gene: AKT1: 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: 21793738; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6005 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Mendeliome v0.6005 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Mendeliome v0.6005 CEP250 Zornitza Stark Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, MIM# 618358
Mendeliome v0.6004 CEP250 Zornitza Stark Publications for gene: CEP250 were set to
Mendeliome v0.6003 CEP250 Zornitza Stark Mode of inheritance for gene: CEP250 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 CEP250 Zornitza Stark reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 RABL2A Eleanor Williams gene: RABL2A was added
gene: RABL2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABL2A was set to Unknown
Publications for gene: RABL2A were set to 33075816
Phenotypes for gene: RABL2A were set to male infertility; ciliopathy
Review for gene: RABL2A was set to RED
Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: Literature
Mendeliome v0.6002 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6002 VCAN Zornitza Stark Marked gene: VCAN as ready
Mendeliome v0.6002 VCAN Zornitza Stark Gene: vcan has been classified as Green List (High Evidence).
Mendeliome v0.6002 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Mendeliome v0.6001 VCAN Zornitza Stark Publications for gene: VCAN were set to
Mendeliome v0.6000 VCAN Zornitza Stark Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 VCAN Zornitza Stark reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16877430, 22739342, 16636652, 16043844, 32854301, 30657523, 30055036, 29071374, 27667122; Phenotypes: Wagner syndrome 1, MIM# 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 CAPN5 Zornitza Stark Marked gene: CAPN5 as ready
Mendeliome v0.5999 CAPN5 Zornitza Stark Gene: capn5 has been classified as Green List (High Evidence).
Mendeliome v0.5999 CAPN5 Zornitza Stark Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Mendeliome v0.5998 CAPN5 Zornitza Stark Publications for gene: CAPN5 were set to
Mendeliome v0.5997 CAPN5 Zornitza Stark Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5996 CAPN5 Zornitza Stark reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23055945, 32274441, 31110225, 30986125; Phenotypes: Vitreoretinopathy, neovascular inflammatory, MIM# 193235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5996 UBIAD1 Zornitza Stark Marked gene: UBIAD1 as ready
Mendeliome v0.5996 UBIAD1 Zornitza Stark Gene: ubiad1 has been classified as Green List (High Evidence).
Mendeliome v0.5996 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5995 UBIAD1 Zornitza Stark Publications for gene: UBIAD1 were set to
Mendeliome v0.5994 UBIAD1 Zornitza Stark Mode of inheritance for gene: UBIAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 UBIAD1 Zornitza Stark reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18176953, 23169578, 31323021, 30785396, 30223810; Phenotypes: Corneal dystrophy, Schnyder type, MIM# 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Mendeliome v0.5993 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Mendeliome v0.5993 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Mendeliome v0.5992 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Mendeliome v0.5991 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TACSTD2 Zornitza Stark Marked gene: TACSTD2 as ready
Mendeliome v0.5990 TACSTD2 Zornitza Stark Gene: tacstd2 has been classified as Green List (High Evidence).
Mendeliome v0.5990 TACSTD2 Zornitza Stark Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Mendeliome v0.5989 TACSTD2 Zornitza Stark Publications for gene: TACSTD2 were set to
Mendeliome v0.5988 TACSTD2 Zornitza Stark Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 TACSTD2 Zornitza Stark reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10192395, 12107443, 12614764, 31666974, 31534795; Phenotypes: Corneal dystrophy, gelatinous drop-like, MIM# 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5987 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5986 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.5986 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Mendeliome v0.5986 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Green List (High Evidence).
Mendeliome v0.5986 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Mendeliome v0.5985 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Mendeliome v0.5984 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16252232, 20036349, 26622166; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Mendeliome v0.5983 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Mendeliome v0.5983 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from to Brittle cornea syndrome 1, MIM# 229200
Mendeliome v0.5982 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Mendeliome v0.5981 ZNF469 Zornitza Stark Mode of inheritance for gene: ZNF469 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 ZNF469 Zornitza Stark reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452888, 19661234, 20938016, 21664999, 32671420; Phenotypes: Brittle cornea syndrome 1, MIM# 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 PIKFYVE Zornitza Stark Marked gene: PIKFYVE as ready
Mendeliome v0.5980 PIKFYVE Zornitza Stark Gene: pikfyve has been classified as Green List (High Evidence).
Mendeliome v0.5980 PIKFYVE Zornitza Stark Phenotypes for gene: PIKFYVE were changed from to Corneal fleck dystrophy, MIM# 121850
Mendeliome v0.5979 PIKFYVE Zornitza Stark Publications for gene: PIKFYVE were set to
Mendeliome v0.5978 PIKFYVE Zornitza Stark Mode of inheritance for gene: PIKFYVE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 PIKFYVE Zornitza Stark reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: None; Publications: 15902656, 23288988, 26396486; Phenotypes: Corneal fleck dystrophy, MIM# 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 OVOL2 Zornitza Stark Marked gene: OVOL2 as ready
Mendeliome v0.5977 OVOL2 Zornitza Stark Gene: ovol2 has been classified as Green List (High Evidence).
Mendeliome v0.5977 OVOL2 Zornitza Stark Phenotypes for gene: OVOL2 were changed from to Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Mendeliome v0.5976 OVOL2 Zornitza Stark Publications for gene: OVOL2 were set to
Mendeliome v0.5975 OVOL2 Zornitza Stark Tag 5'UTR tag was added to gene: OVOL2.
Mendeliome v0.5975 OVOL2 Zornitza Stark Mode of inheritance for gene: OVOL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 OVOL2 Zornitza Stark reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26749309; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, MIM# 122000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 KRT3 Zornitza Stark Marked gene: KRT3 as ready
Mendeliome v0.5974 KRT3 Zornitza Stark Gene: krt3 has been classified as Green List (High Evidence).
Mendeliome v0.5974 KRT3 Zornitza Stark Phenotypes for gene: KRT3 were changed from to Meesmann corneal dystrophy 2, MIM# 618767
Mendeliome v0.5973 KRT3 Zornitza Stark Publications for gene: KRT3 were set to
Mendeliome v0.5972 KRT3 Zornitza Stark Mode of inheritance for gene: KRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 KRT3 Zornitza Stark reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 16227835, 18806880, 26788030; Phenotypes: Meesmann corneal dystrophy 2, MIM# 618767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 DCN Zornitza Stark Marked gene: DCN as ready
Mendeliome v0.5971 DCN Zornitza Stark Gene: dcn has been classified as Green List (High Evidence).
Mendeliome v0.5971 DCN Zornitza Stark Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Mendeliome v0.5970 DCN Zornitza Stark Publications for gene: DCN were set to
Mendeliome v0.5969 DCN Zornitza Stark Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 DCN Zornitza Stark reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671264, 16935612, 21993463, 24413633, 26828927; Phenotypes: Corneal dystrophy, congenital stromal, MIM# 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 COL8A2 Zornitza Stark Marked gene: COL8A2 as ready
Mendeliome v0.5968 COL8A2 Zornitza Stark Gene: col8a2 has been classified as Green List (High Evidence).
Mendeliome v0.5968 COL8A2 Zornitza Stark Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Mendeliome v0.5967 COL8A2 Zornitza Stark Publications for gene: COL8A2 were set to
Mendeliome v0.5966 COL8A2 Zornitza Stark Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5965 COL8A2 Zornitza Stark reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11689488, 15914606, 18024822, 18464802; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800, Corneal dystrophy, posterior polymorphous 2, MIM# 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5965 STX3 Zornitza Stark Marked gene: STX3 as ready
Mendeliome v0.5965 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Mendeliome v0.5965 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Mendeliome v0.5964 STX3 Zornitza Stark Publications for gene: STX3 were set to
Mendeliome v0.5963 STX3 Zornitza Stark Mode of inheritance for gene: STX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Mendeliome v0.5962 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Mendeliome v0.5962 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic 270420
Mendeliome v0.5961 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Mendeliome v0.5960 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5959 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5959 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Mendeliome v0.5959 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Mendeliome v0.5959 SLC9A3 Zornitza Stark Phenotypes for gene: SLC9A3 were changed from to Diarrhoea 8, secretory sodium, congenital 616868
Mendeliome v0.5958 SLC9A3 Zornitza Stark Publications for gene: SLC9A3 were set to
Mendeliome v0.5957 SLC9A3 Zornitza Stark Mode of inheritance for gene: SLC9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5956 SLC9A3 Zornitza Stark reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773; Phenotypes: Diarrhoea 8, secretory sodium, congenital 616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5956 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Mendeliome v0.5956 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Mendeliome v0.5956 SLC5A1 Zornitza Stark Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824
Mendeliome v0.5955 SLC5A1 Zornitza Stark Publications for gene: SLC5A1 were set to
Mendeliome v0.5954 SLC5A1 Zornitza Stark Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5953 SLC5A1 Zornitza Stark reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486940, 32946683; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5953 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Mendeliome v0.5953 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Mendeliome v0.5953 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, MIM# 201100
Mendeliome v0.5952 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Mendeliome v0.5951 SLC39A4 Zornitza Stark Mode of inheritance for gene: SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5950 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5950 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Mendeliome v0.5950 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Mendeliome v0.5950 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Mendeliome v0.5949 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Mendeliome v0.5948 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5947 SLC26A3 Zornitza Stark reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5947 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Mendeliome v0.5947 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Mendeliome v0.5947 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Mendeliome v0.5946 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Mendeliome v0.5946 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5946 SLC10A2 Zornitza Stark Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291
Mendeliome v0.5945 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to
Mendeliome v0.5944 SLC10A2 Zornitza Stark Mode of inheritance for gene: SLC10A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5943 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Mendeliome v0.5943 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5942 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: RED; Mode of pathogenicity: None; Publications: 9109432; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5942 PLVAP Zornitza Stark Marked gene: PLVAP as ready
Mendeliome v0.5942 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Mendeliome v0.5942 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Mendeliome v0.5941 PLVAP Zornitza Stark Publications for gene: PLVAP were set to
Mendeliome v0.5940 PLVAP Zornitza Stark Mode of inheritance for gene: PLVAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Mendeliome v0.5939 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Mendeliome v0.5939 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Mendeliome v0.5938 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Mendeliome v0.5937 NEUROG3 Zornitza Stark Mode of inheritance for gene: NEUROG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5936 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Marked gene: TMPRSS15 as ready
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200
Mendeliome v0.5935 TMPRSS15 Zornitza Stark Publications for gene: TMPRSS15 were set to
Mendeliome v0.5934 TMPRSS15 Zornitza Stark Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5933 TMPRSS15 Zornitza Stark reviewed gene: TMPRSS15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11719902, 33061943; Phenotypes: Enterokinase deficiency, MIM# 226200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5933 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Mendeliome v0.5933 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Mendeliome v0.5933 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Mendeliome v0.5932 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Mendeliome v0.5931 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 WNT2B Zornitza Stark Marked gene: WNT2B as ready
Mendeliome v0.5930 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Mendeliome v0.5930 WNT2B Zornitza Stark Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Mendeliome v0.5929 WNT2B Zornitza Stark Publications for gene: WNT2B were set to
Mendeliome v0.5928 WNT2B Zornitza Stark Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5927 WNT2B Zornitza Stark reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5927 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Mendeliome v0.5927 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Mendeliome v0.5927 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850; Cholestasis
Mendeliome v0.5926 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Mendeliome v0.5925 MYO5B Zornitza Stark Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 28027573, 27532546; Phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 LCT Zornitza Stark Marked gene: LCT as ready
Mendeliome v0.5924 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Mendeliome v0.5924 LCT Zornitza Stark Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
Mendeliome v0.5923 LCT Zornitza Stark Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5922 LCT Zornitza Stark reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5922 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Mendeliome v0.5922 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.5922 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Mendeliome v0.5922 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Mendeliome v0.5922 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799
Mendeliome v0.5921 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Mendeliome v0.5920 CAMK2B Zornitza Stark Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5919 CAMK2B Zornitza Stark reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5919 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Mendeliome v0.5919 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.5918 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Mendeliome v0.5918 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Mendeliome v0.5917 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Mendeliome v0.5917 RPL3L Seb Lunke Marked gene: RPL3L as ready
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Mendeliome v0.5917 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke changed review comment from: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.; to: Comment on list classification: Very little evidence at this stage, just one consanguineous family with some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Marked gene: LSM11 as ready
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke Classified gene: LSM11 as Red List (low evidence)
Mendeliome v0.5916 LSM11 Seb Lunke Added comment: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Marked gene: DPH2 as ready
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Classified gene: DPH2 as Amber List (moderate evidence)
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5914 RNU7-1 Ee Ming Wong changed review comment from: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature; to: - 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5914 RNU7-1 Ee Ming Wong gene: RNU7-1 was added
gene: RNU7-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to PMID: 33230297
Phenotypes for gene: RNU7-1 were set to PMID: 33230297
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5914 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Mendeliome v0.5914 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to AMBER
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling
Sources: Literature
Mendeliome v0.5914 DPH2 Paul De Fazio changed review comment from: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature; to: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)

Another family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Mendeliome v0.5914 DPH2 Paul De Fazio gene: DPH2 was added
gene: DPH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH2 were set to 32576952; 27421267
Phenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome
Review for gene: DPH2 was set to AMBER
gene: DPH2 was marked as current diagnostic
Added comment: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Mendeliome v0.5914 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Mendeliome v0.5914 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Mendeliome v0.5914 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Mendeliome v0.5914 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Mendeliome v0.5913 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Mendeliome v0.5912 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5911 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5911 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Mendeliome v0.5911 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Mendeliome v0.5911 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Mendeliome v0.5910 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Mendeliome v0.5909 DGAT1 Zornitza Stark Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5908 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5908 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Mendeliome v0.5908 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5908 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Mendeliome v0.5907 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Mendeliome v0.5906 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5905 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Mendeliome v0.5905 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5904 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease: variants reported have high frequency in gnomad, not in keeping with Mendelian disorder.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5904 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Mendeliome v0.5904 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Mendeliome v0.5904 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Mendeliome v0.5903 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5902 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5902 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Mendeliome v0.5902 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Mendeliome v0.5902 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Mendeliome v0.5901 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Mendeliome v0.5900 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Mendeliome v0.5899 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Mendeliome v0.5899 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Mendeliome v0.5899 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Mendeliome v0.5898 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Mendeliome v0.5897 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5896 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5896 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Mendeliome v0.5896 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Mendeliome v0.5896 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Mendeliome v0.5895 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Mendeliome v0.5894 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 CFAP58 Zornitza Stark Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) to Spermatogenic failure 49, MIM#619144; Multiple morphological abnormalities of the sperm flagella (MMAF)
Mendeliome v0.5892 CFAP58 Zornitza Stark reviewed gene: CFAP58: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 49, MIM#619144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5892 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150
Mendeliome v0.5891 AGPAT2 Zornitza Stark Tag SV/CNV tag was added to gene: AGPAT2.
Mendeliome v0.5891 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5891 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Mendeliome v0.5891 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Mendeliome v0.5891 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1 MIM#608594
Mendeliome v0.5890 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Mendeliome v0.5889 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 AGPAT2 Elena Savva reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32876150; Phenotypes: Lipodystrophy, congenital generalized, type 1 MIM#608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Mendeliome v0.5888 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Mendeliome v0.5888 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Mendeliome v0.5887 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Mendeliome v0.5886 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Mendeliome v0.5885 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Mendeliome v0.5885 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Mendeliome v0.5884 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Mendeliome v0.5883 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Mendeliome v0.5882 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Mendeliome v0.5882 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Mendeliome v0.5881 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Mendeliome v0.5880 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5879 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5879 GABRD Zornitza Stark Marked gene: GABRD as ready
Mendeliome v0.5879 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5879 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Mendeliome v0.5878 GABRD Zornitza Stark Publications for gene: GABRD were set to
Mendeliome v0.5877 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5876 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Mendeliome v0.5876 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5875 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5875 SPR Zornitza Stark Marked gene: SPR as ready
Mendeliome v0.5875 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Mendeliome v0.5875 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Mendeliome v0.5874 SPR Zornitza Stark Publications for gene: SPR were set to
Mendeliome v0.5873 SPR Zornitza Stark edited their review of gene: SPR: Changed publications: 22522443, 16650784, 21431957, 28189489
Mendeliome v0.5873 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5872 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Mendeliome v0.5872 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Mendeliome v0.5872 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Mendeliome v0.5871 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Mendeliome v0.5870 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5869 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Mendeliome v0.5869 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Mendeliome v0.5869 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Mendeliome v0.5868 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Mendeliome v0.5867 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5866 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5866 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Mendeliome v0.5866 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Mendeliome v0.5866 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5865 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None
Mendeliome v0.5865 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5864 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5864 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Mendeliome v0.5864 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Mendeliome v0.5864 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Mendeliome v0.5863 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Mendeliome v0.5862 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5861 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5861 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Mendeliome v0.5860 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Mendeliome v0.5860 GSTO1 Zornitza Stark Marked gene: GSTO1 as ready
Mendeliome v0.5860 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Mendeliome v0.5860 GSTO1 Zornitza Stark Phenotypes for gene: GSTO1 were changed from to Deficiency of Human Glutathione Transferase Omega 1
Mendeliome v0.5859 GSTO1 Zornitza Stark Publications for gene: GSTO1 were set to
Mendeliome v0.5858 GSTO1 Zornitza Stark Classified gene: GSTO1 as Red List (low evidence)
Mendeliome v0.5858 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Mendeliome v0.5857 GSTO1 Elena Savva reviewed gene: GSTO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21106529; Phenotypes: Deficiency of Human Glutathione Transferase Omega 1; Mode of inheritance: None
Mendeliome v0.5857 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Mendeliome v0.5857 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Mendeliome v0.5857 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Mendeliome v0.5857 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Intellectual disability; Iris abnormalities; Complex microphthalmia
Mendeliome v0.5856 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Mendeliome v0.5855 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5854 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Intellectual disability, Iris abnormalities, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5854 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Mendeliome v0.5854 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Mendeliome v0.5854 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Mendeliome v0.5853 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Mendeliome v0.5852 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5851 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5851 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Mendeliome v0.5851 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Mendeliome v0.5851 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Mendeliome v0.5850 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Mendeliome v0.5849 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5848 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5848 ATIC Zornitza Stark Marked gene: ATIC as ready
Mendeliome v0.5848 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Mendeliome v0.5848 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Mendeliome v0.5847 ATIC Zornitza Stark Publications for gene: ATIC were set to
Mendeliome v0.5846 ATIC Zornitza Stark Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5845 ATIC Zornitza Stark reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5845 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5845 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5844 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.5843 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Mendeliome v0.5843 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Mendeliome v0.5843 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Mendeliome v0.5842 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Mendeliome v0.5841 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5840 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5840 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Mendeliome v0.5840 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Mendeliome v0.5840 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Mendeliome v0.5839 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Mendeliome v0.5838 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Mendeliome v0.5837 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Mendeliome v0.5837 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Mendeliome v0.5836 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Mendeliome v0.5835 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5834 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5834 RERE Zornitza Stark Marked gene: RERE as ready
Mendeliome v0.5834 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Mendeliome v0.5834 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Mendeliome v0.5833 RERE Zornitza Stark Publications for gene: RERE were set to
Mendeliome v0.5832 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5830 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5830 RAX Zornitza Stark Marked gene: RAX as ready
Mendeliome v0.5830 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Mendeliome v0.5830 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, MIM# 611038 to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5829 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5828 RAX Zornitza Stark Publications for gene: RAX were set to
Mendeliome v0.5827 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5826 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5826 RARB Zornitza Stark Marked gene: RARB as ready
Mendeliome v0.5826 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Mendeliome v0.5826 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Mendeliome v0.5825 RARB Zornitza Stark Publications for gene: RARB were set to
Mendeliome v0.5824 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Mendeliome v0.5823 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARA Zornitza Stark Phenotypes for gene: RARA were changed from to Syndromic chorioretinal coloboma
Mendeliome v0.5821 RARA Zornitza Stark Publications for gene: RARA were set to
Mendeliome v0.5820 RARA Zornitza Stark Mode of inheritance for gene: RARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5819 RARA Zornitza Stark Deleted their comment
Mendeliome v0.5819 RARA Zornitza Stark edited their review of gene: RARA: Added comment: Single case report of de novo missense variant in association with syndromic coloboma.; Changed publications: 31343737; Changed phenotypes: Syndromic chorioretinal coloboma
Mendeliome v0.5819 PXDN Zornitza Stark Marked gene: PXDN as ready
Mendeliome v0.5819 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Mendeliome v0.5819 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Mendeliome v0.5818 PXDN Zornitza Stark Publications for gene: PXDN were set to
Mendeliome v0.5817 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5816 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5816 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Mendeliome v0.5816 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Mendeliome v0.5816 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Mendeliome v0.5815 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Mendeliome v0.5814 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5813 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5813 MFRP Zornitza Stark Marked gene: MFRP as ready
Mendeliome v0.5813 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Mendeliome v0.5813 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Mendeliome v0.5812 MFRP Zornitza Stark Publications for gene: MFRP were set to
Mendeliome v0.5811 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5810 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5810 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Mendeliome v0.5810 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Mendeliome v0.5810 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Mendeliome v0.5809 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Mendeliome v0.5808 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5807 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.
Mendeliome v0.5807 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5807 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mendeliome v0.5807 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mendeliome v0.5807 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mendeliome v0.5806 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mendeliome v0.5805 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5804 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5804 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Mendeliome v0.5804 POLR1A Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for the association between bi-allelic variants and leukodystrophy.
Mendeliome v0.5804 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Mendeliome v0.5804 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462) to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy
Mendeliome v0.5803 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, (MIM#616462)
Mendeliome v0.5802 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Mendeliome v0.5801 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 POLR1A Ain Roesley reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 LOXL3 Zornitza Stark Marked gene: LOXL3 as ready
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5800 LOXL3 Zornitza Stark Classified gene: LOXL3 as Amber List (moderate evidence)
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5799 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 30362103; 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Review for gene: LOXL3 was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association.
Sources: Expert Review
Mendeliome v0.5798 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Mendeliome v0.5798 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Mendeliome v0.5798 RBP4 Zornitza Stark Phenotypes for gene: RBP4 were changed from to Microphthalmia, isolated, with coloboma 10 MIM#616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Mendeliome v0.5797 RBP4 Zornitza Stark Publications for gene: RBP4 were set to
Mendeliome v0.5796 RBP4 Zornitza Stark Mode of inheritance for gene: RBP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5795 RBP4 Zornitza Stark reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25910211, 29178648, 23189188, 9888420, 32323592; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5795 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Mendeliome v0.5795 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5795 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Mendeliome v0.5794 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Mendeliome v0.5793 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5792 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Mendeliome v0.5792 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5791 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5791 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Mendeliome v0.5791 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Mendeliome v0.5791 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Mendeliome v0.5790 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Mendeliome v0.5789 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5788 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5788 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Mendeliome v0.5788 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Mendeliome v0.5788 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Mendeliome v0.5787 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Mendeliome v0.5786 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5785 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Mendeliome v0.5784 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Mendeliome v0.5783 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5782 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5782 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 VEGFC Zornitza Stark Marked gene: VEGFC as ready
Mendeliome v0.5781 VEGFC Zornitza Stark Gene: vegfc has been classified as Green List (High Evidence).
Mendeliome v0.5781 VEGFC Zornitza Stark Phenotypes for gene: VEGFC were changed from to Lymphatic malformation 4, MIM#615907
Mendeliome v0.5780 VEGFC Zornitza Stark Publications for gene: VEGFC were set to
Mendeliome v0.5779 VEGFC Zornitza Stark Mode of inheritance for gene: VEGFC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5778 VEGFC Elena Savva reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23410910, 24744435, 30071673; Phenotypes: Lymphatic malformation 4, MIM#615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5778 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Mendeliome v0.5777 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Mendeliome v0.5777 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5776 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5776 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 NSD1 Chern Lim reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16010675, 15942875; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.5775 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Mendeliome v0.5775 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Mendeliome v0.5775 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Mendeliome v0.5774 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Mendeliome v0.5773 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5772 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5772 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Mendeliome v0.5772 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Mendeliome v0.5772 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483
Mendeliome v0.5771 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Mendeliome v0.5770 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5769 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5769 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Mendeliome v0.5769 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5769 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Mendeliome v0.5769 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Mendeliome v0.5769 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Mendeliome v0.5769 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Mendeliome v0.5768 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Mendeliome v0.5767 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Mendeliome v0.5766 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Mendeliome v0.5766 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Mendeliome v0.5766 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Mendeliome v0.5766 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Mendeliome v0.5765 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Mendeliome v0.5764 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Mendeliome v0.5762 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to 31423530; 19508970
Mendeliome v0.5761 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5761 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Mendeliome v0.5761 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Mendeliome v0.5761 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Mendeliome v0.5760 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Mendeliome v0.5759 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM# 616858
Mendeliome v0.5757 SEC23B Zornitza Stark Publications for gene: SEC23B were set to 19561605; 19621418
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472
Mendeliome v0.5756 SEC23B Zornitza Stark changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.

Mono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.
Mendeliome v0.5756 GNE Zornitza Stark Marked gene: GNE as ready
Mendeliome v0.5756 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Mendeliome v0.5756 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Mendeliome v0.5755 GNE Zornitza Stark Publications for gene: GNE were set to
Mendeliome v0.5754 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5753 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5753 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Mendeliome v0.5753 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Mendeliome v0.5753 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5752 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5752 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Mendeliome v0.5752 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Mendeliome v0.5751 CHSY1 Zornitza Stark edited their review of gene: CHSY1: Changed phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5751 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Mendeliome v0.5751 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Mendeliome v0.5751 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5750 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Mendeliome v0.5749 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: VTemtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Mendeliome v0.5748 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Mendeliome v0.5748 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Mendeliome v0.5747 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Mendeliome v0.5746 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark Tag founder tag was added to gene: DHDDS.
Mendeliome v0.5745 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 29100083, 21295283; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM#617836, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5745 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to 11836357
Mendeliome v0.5744 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5743 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 24084572; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5743 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Mendeliome v0.5743 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Mendeliome v0.5743 FBLN1 Zornitza Stark Phenotypes for gene: FBLN1 were changed from to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180
Mendeliome v0.5742 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to
Mendeliome v0.5741 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5740 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Mendeliome v0.5740 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Mendeliome v0.5739 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1X 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: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Mendeliome v0.5738 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Mendeliome v0.5737 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 FBLN1 Elena Savva reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5736 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Mendeliome v0.5736 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Mendeliome v0.5736 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5735 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Mendeliome v0.5734 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 SUCLA2 Zornitza Stark edited their review of gene: SUCLA2: Changed phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5733 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877282, 17287286, 17301081, 23759946, 33231368, 33230181, 28243576, 27913098, 27651038; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Mendeliome v0.5733 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Mendeliome v0.5733 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Mendeliome v0.5732 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Mendeliome v0.5731 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5730 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5730 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Mendeliome v0.5730 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Mendeliome v0.5730 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Mendeliome v0.5729 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Mendeliome v0.5728 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Mendeliome v0.5727 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Mendeliome v0.5727 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Mendeliome v0.5726 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Mendeliome v0.5725 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MPI Zornitza Stark Marked gene: MPI as ready
Mendeliome v0.5724 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Mendeliome v0.5724 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Mendeliome v0.5723 MPI Zornitza Stark Publications for gene: MPI were set to
Mendeliome v0.5722 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Mendeliome v0.5721 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Mendeliome v0.5721 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Mendeliome v0.5720 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Mendeliome v0.5719 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGM3 Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.
Mendeliome v0.5718 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Mendeliome v0.5718 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Mendeliome v0.5718 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Mendeliome v0.5717 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Mendeliome v0.5716 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Mendeliome v0.5715 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Mendeliome v0.5715 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Mendeliome v0.5714 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Mendeliome v0.5713 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PIGV Zornitza Stark Marked gene: PIGV as ready
Mendeliome v0.5712 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Mendeliome v0.5712 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Mendeliome v0.5711 PIGV Zornitza Stark Publications for gene: PIGV were set to
Mendeliome v0.5710 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5709 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5709 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5708 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5708 PIGO Zornitza Stark Marked gene: PIGO as ready
Mendeliome v0.5708 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Mendeliome v0.5708 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Mendeliome v0.5707 PIGO Zornitza Stark Publications for gene: PIGO were set to
Mendeliome v0.5706 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Mendeliome v0.5705 PIGN Zornitza Stark Marked gene: PIGN as ready
Mendeliome v0.5705 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Mendeliome v0.5705 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Mendeliome v0.5704 PIGN Zornitza Stark Publications for gene: PIGN were set to
Mendeliome v0.5703 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5702 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5702 PIGA Zornitza Stark Marked gene: PIGA as ready
Mendeliome v0.5702 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Mendeliome v0.5702 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Mendeliome v0.5701 PIGA Zornitza Stark Publications for gene: PIGA were set to
Mendeliome v0.5700 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5699 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5699 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Mendeliome v0.5699 PIGL Zornitza Stark Marked gene: PIGL as ready
Mendeliome v0.5699 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Mendeliome v0.5699 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Mendeliome v0.5698 PIGL Zornitza Stark Publications for gene: PIGL were set to
Mendeliome v0.5697 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Mendeliome v0.5696 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Mendeliome v0.5696 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Mendeliome v0.5695 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Mendeliome v0.5694 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Mendeliome v0.5692 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Mendeliome v0.5691 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Mendeliome v0.5690 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Mendeliome v0.5690 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Mendeliome v0.5689 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Mendeliome v0.5688 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5687 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5687 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Mendeliome v0.5687 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Mendeliome v0.5687 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Mendeliome v0.5686 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Mendeliome v0.5685 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Mendeliome v0.5684 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078
Mendeliome v0.5684 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DOLK Zornitza Stark Marked gene: DOLK as ready
Mendeliome v0.5684 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Mendeliome v0.5684 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Mendeliome v0.5683 DOLK Zornitza Stark Publications for gene: DOLK were set to
Mendeliome v0.5682 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Mendeliome v0.5681 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Mendeliome v0.5681 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
Mendeliome v0.5680 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Mendeliome v0.5679 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.5678 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mendeliome v0.5677 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mendeliome v0.5677 SLC2A1 Elena Savva reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18451999, 20129935, 10980529, 20221955, 31196579; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126, {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5677 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Mendeliome v0.5677 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Mendeliome v0.5677 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Mendeliome v0.5676 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Mendeliome v0.5675 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 POR Zornitza Stark Marked gene: POR as ready
Mendeliome v0.5674 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Mendeliome v0.5674 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Mendeliome v0.5673 POR Zornitza Stark Publications for gene: POR were set to
Mendeliome v0.5672 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5671 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Mendeliome v0.5671 MYH6 Zornitza Stark Gene: myh6 has been classified as Green List (High Evidence).
Mendeliome v0.5671 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3 MIM#614089; Congenital heart disease; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090
Mendeliome v0.5670 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Mendeliome v0.5669 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32656206, 31638415, 29969989, 29536580, 29332214, 30681346; Phenotypes: Atrial septal defect 3 MIM#614089, Congenital heart disease, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Mendeliome v0.5668 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Mendeliome v0.5668 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Mendeliome v0.5667 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Mendeliome v0.5666 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 POR Elena Savva reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5665 MYH6 Elena Savva reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 3 MIM#614089, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5665 EZH2 Elena Savva reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29244146; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5665 COG6 Zornitza Stark Marked gene: COG6 as ready
Mendeliome v0.5665 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Mendeliome v0.5665 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Mendeliome v0.5664 COG6 Zornitza Stark Publications for gene: COG6 were set to
Mendeliome v0.5663 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG5 Zornitza Stark Marked gene: COG5 as ready
Mendeliome v0.5662 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Mendeliome v0.5662 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Mendeliome v0.5661 COG5 Zornitza Stark Publications for gene: COG5 were set to
Mendeliome v0.5660 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Mendeliome v0.5659 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Mendeliome v0.5659 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from to Premature ovarian failure 6, MIM# 612310
Mendeliome v0.5658 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Mendeliome v0.5657 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Mendeliome v0.5656 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Mendeliome v0.5656 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Mendeliome v0.5655 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Mendeliome v0.5654 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5653 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal