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Fetal anomalies v0.1182 CD151 Zornitza Stark Publications for gene: CD151 were set to
Fetal anomalies v0.1181 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Fetal anomalies v0.1181 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1180 CD151 Zornitza Stark reviewed gene: CD151: Rating: RED; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.3 CD151 Zornitza Stark edited their review of gene: CD151: Changed rating: GREEN
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1176 CCDC8 Zornitza Stark changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.
Fetal anomalies v0.1176 CCDC8 Zornitza Stark edited their review of gene: CCDC8: Changed rating: GREEN
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES to Centronuclear myopathy 4, MIM#614807
Fetal anomalies v0.1175 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Fetal anomalies v0.1174 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Classified gene: CCDC78 as Red List (low evidence)
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1172 CCDC78 Zornitza Stark changed review comment from: Single family reported in the literature only. Mild intellectual disability was part of the phenotype.; to: Single family reported in the literature only. Onset in early childhood.
Fetal anomalies v0.1172 CCDC78 Zornitza Stark edited their review of gene: CCDC78: Changed rating: RED
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Classified gene: CCDC22 as Green List (high evidence)
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.160 CCDC22 Zornitza Stark gene: CCDC22 was added
gene: CCDC22 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CCDC22 were set to 21826058; 24916641; 34020006; 33059814; 31971710
Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM# 300963
Review for gene: CCDC22 was set to GREEN
Added comment: Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. At least 5 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Intellectual disability syndromic and non-syndromic v0.4364 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Intellectual disability syndromic and non-syndromic v0.4363 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4362 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10191 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Mendeliome v0.10191 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Mendeliome v0.10191 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Mendeliome v0.10190 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Mendeliome v0.10189 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, MIM# 300963
Fetal anomalies v0.1171 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Classified gene: CCDC22 as Green List (high evidence)
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC22 Zornitza Stark edited their review of gene: CCDC22: Changed rating: GREEN
Fetal anomalies v0.1169 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: ; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Publications for gene: CCDC151 were set to
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Classified gene: CCDC151 as Green List (high evidence)
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Marked gene: CASR as ready
Fetal anomalies v0.1167 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 to Hyperparathyroidism, neonatal, MIM# 239200
Fetal anomalies v0.1166 CASR Zornitza Stark Classified gene: CASR as Red List (low evidence)
Fetal anomalies v0.1166 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CASR Zornitza Stark reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871; 29229434
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Gene: dsg1 has been classified as Green List (High Evidence).
Mendeliome v0.10188 CFAP65 Zornitza Stark Publications for gene: CFAP65 were set to 31501240; 31413122
Mendeliome v0.10187 RNF212 Zornitza Stark Marked gene: RNF212 as ready
Mendeliome v0.10187 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10187 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from to Recombination rate QTL 1, MIM#612042
Mendeliome v0.10186 RNF212 Zornitza Stark Publications for gene: RNF212 were set to
Mendeliome v0.10185 RNF212 Zornitza Stark Classified gene: RNF212 as Red List (low evidence)
Mendeliome v0.10185 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
IBMDx study v0.0 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
IBMDx study v0.0 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: XRCC2 was set to Unknown
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
IBMDx study v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to Unknown
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
IBMDx study v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WIPF1 was set to Unknown
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
IBMDx study v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WAS was set to Unknown
Phenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
IBMDx study v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: VPS45 was set to Unknown
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
IBMDx study v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: UBE2T was set to Unknown
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
IBMDx study v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TINF2 was set to Unknown
Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
IBMDx study v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: THPO was set to Unknown
Phenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure
IBMDx study v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERT was set to Unknown
Phenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
IBMDx study v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERC was set to Unknown
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
IBMDx study v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SRP54 was set to Unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
IBMDx study v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLX4 was set to Unknown
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM# 613951
IBMDx study v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to Unknown
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
IBMDx study v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to Unknown
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
IBMDx study v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SEC23B was set to Unknown
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
IBMDx study v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SBDS was set to Unknown
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400
IBMDx study v0.0 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9L was set to Unknown
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
IBMDx study v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to Unknown
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
IBMDx study v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RUNX1 was set to Unknown
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
IBMDx study v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to Unknown
Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190
IBMDx study v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS7 was set to Unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
IBMDx study v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS29 was set to Unknown
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MIM# 615909
IBMDx study v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS27 was set to Unknown
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409
IBMDx study v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS26 was set to Unknown
Phenotypes for gene: RPS26 were set to MONDO:0013217; Diamond-Blackfan anemia 10, MIM# 613309
IBMDx study v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS24 was set to Unknown
Phenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629
IBMDx study v0.0 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS20 was set to Unknown
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS19 was set to Unknown
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
IBMDx study v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS17 was set to Unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
IBMDx study v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS10 was set to Unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
IBMDx study v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL9 was set to Unknown
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL5 was set to Unknown
Phenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561
IBMDx study v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL35A was set to Unknown
Phenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528
IBMDx study v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL31 was set to Unknown
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL27 was set to Unknown
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, MIM# 617408
IBMDx study v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL26 was set to Unknown
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900
IBMDx study v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL15 was set to Unknown
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
IBMDx study v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL11 was set to Unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
IBMDx study v0.0 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPA1 was set to Unknown
Phenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes
IBMDx study v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RBM8A was set to Unknown
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
IBMDx study v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RAD51C was set to Unknown
Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390
IBMDx study v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PUS1 was set to Unknown
Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
IBMDx study v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PARN was set to Unknown
Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
IBMDx study v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PALB2 was set to Unknown
Phenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832
IBMDx study v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NHP2 was set to Unknown
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
IBMDx study v0.0 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NBEAL2 was set to Unknown
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
IBMDx study v0.0 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYSM1 was set to Unknown
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
IBMDx study v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
IBMDx study v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MPL was set to Unknown
Phenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
IBMDx study v0.0 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MECOM was set to Unknown
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)
IBMDx study v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LYST was set to Unknown
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome (CHS)
IBMDx study v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LIG4 was set to Unknown
Phenotypes for gene: LIG4 were set to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
IBMDx study v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: KLF1 was set to Unknown
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
IBMDx study v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to Unknown
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
IBMDx study v0.0 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGB3 was set to Unknown
Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGA2B was set to Unknown
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HOXA11 was set to Unknown
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
IBMDx study v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HAX1 was set to Unknown
Phenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
IBMDx study v0.0 GP9 Zornitza Stark gene: GP9 was added
gene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP9 was set to Unknown
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BB Zornitza Stark gene: GP1BB was added
gene: GP1BB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BB was set to Unknown
Phenotypes for gene: GP1BB were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BA Zornitza Stark gene: GP1BA was added
gene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BA was set to Unknown
Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GLRX5 was set to Unknown
Phenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
IBMDx study v0.0 GFI1B Zornitza Stark gene: GFI1B was added
gene: GFI1B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1B was set to Unknown
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17
IBMDx study v0.0 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1 was set to Unknown
Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
IBMDx study v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA2 was set to Unknown
Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Immunodeficiency 21, MIM# 614172; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
IBMDx study v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA1 was set to Unknown
Phenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
IBMDx study v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to Unknown
Phenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
IBMDx study v0.0 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FLI1 was set to Unknown
Phenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome
IBMDx study v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCM was set to Unknown
Phenotypes for gene: FANCM were set to Fanconi anaemia
IBMDx study v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCL was set to Unknown
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
IBMDx study v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCI was set to Unknown
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
IBMDx study v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCG was set to Unknown
Phenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082
IBMDx study v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCF was set to Unknown
Phenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325
IBMDx study v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCE was set to Unknown
Phenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
IBMDx study v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to Unknown
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
IBMDx study v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCC was set to Unknown
Phenotypes for gene: FANCC were set to MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645
IBMDx study v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCB was set to Unknown
Phenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514
IBMDx study v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCA was set to Unknown
Phenotypes for gene: FANCA were set to MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650
IBMDx study v0.0 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ETV6 was set to Unknown
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
IBMDx study v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
IBMDx study v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to Unknown
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272
IBMDx study v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ELANE was set to Unknown
Phenotypes for gene: ELANE were set to Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700
IBMDx study v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: EFL1 was set to Unknown
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
IBMDx study v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to Unknown
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
IBMDx study v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DKC1 was set to Unknown
Phenotypes for gene: DKC1 were set to Hoyeraal-Hreidarsson Syndrome; Dyskeratosis congenita, X-linked 305000
IBMDx study v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DIAPH1 was set to Unknown
Phenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss
IBMDx study v0.0 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DDX41 was set to Unknown
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
IBMDx study v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CYCS was set to Unknown
Phenotypes for gene: CYCS were set to Autosomal dominant thrombocytopenia 4
IBMDx study v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CXCR4 was set to Unknown
Phenotypes for gene: CXCR4 were set to WHIM syndrome, MIM# 193670
IBMDx study v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CTC1 was set to Unknown
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
IBMDx study v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CSF3R was set to Unknown
Phenotypes for gene: CSF3R were set to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
IBMDx study v0.0 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDC42 was set to Unknown
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome with thrombocytopenia
IBMDx study v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to Unknown
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, 224120
IBMDx study v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: C15orf41 was set to Unknown
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
IBMDx study v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to Unknown
Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000
IBMDx study v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to Unknown
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, 1, MIM# 300751
IBMDx study v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: AK2 was set to Unknown
Phenotypes for gene: AK2 were set to MONDO:0009973; Reticular dysgenesis, MIM# 267500
IBMDx study v0.0 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADH5 was set to Unknown
Phenotypes for gene: ADH5 were set to AMED syndrome, digenic, MIM# 619151; short stature; Aplastic anaemia; myelodysplasia
IBMDx study v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADA2 was set to Unknown
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
IBMDx study v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to Unknown
Phenotypes for gene: ACTN1 were set to ACTN1 related thrombocytopenia
IBMDx study v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to Unknown
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, MIM# 301310
IBMDx study v0.0 Zornitza Stark Added panel IBMDx study
Epidermolysis bullosa v1.1 DSG1 Chern Lim reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29229434; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Brain Channelopathies v1.3 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Brain Channelopathies v1.2 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 24700542; 22782511; 16537460
Brain Channelopathies v1.1 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v1.0 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Bi-allelic variants:

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.98 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Paroxysmal Dyskinesia v0.97 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Fetal anomalies v0.1165 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Fetal anomalies v0.1165 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Epileptic encephalopathy with complex movement disorder and regression to Combined oxidative phosphorylation deficiency 27, MIM#616672
Fetal anomalies v0.1164 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Fetal anomalies v0.1163 CARS2 Zornitza Stark Classified gene: CARS2 as Red List (low evidence)
Fetal anomalies v0.1163 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1162 CARS2 Zornitza Stark changed review comment from: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals described with this mitochondrial disorder, primarily neurological involvement, post-natal onset.
Sources: Expert list
Fetal anomalies v0.1162 CARS2 Zornitza Stark edited their review of gene: CARS2: Changed rating: RED
Paroxysmal Dyskinesia v0.96 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4362 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM#606703 to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Intellectual disability syndromic and non-syndromic v0.4361 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Intellectual disability syndromic and non-syndromic v0.4360 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4359 ADCY5 Zornitza Stark Classified gene: ADCY5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4359 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark changed review comment from: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647.
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark changed review comment from: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.

Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature.
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.; Changed rating: AMBER; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.15 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Dystonia - isolated/combined v1.14 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Dystonia - isolated/combined v1.13 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.12 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10184 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Mendeliome v0.10183 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Mendeliome v0.10182 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 CFAP65 Eleanor Williams reviewed gene: CFAP65: Rating: ; Mode of pathogenicity: None; Publications: 34231842; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10181 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Mendeliome v0.10181 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Mendeliome v0.10181 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Mendeliome v0.10180 CANT1 Zornitza Stark Publications for gene: CANT1 were set to 19853239; 21037275; 28742282
Mendeliome v0.10179 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Mendeliome v0.10178 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1 MIM#251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1162 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Fetal anomalies v0.1162 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1162 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 to Desbuquois dysplasia 1, MIM# 251450
Fetal anomalies v0.1161 CANT1 Zornitza Stark Classified gene: CANT1 as Green List (high evidence)
Fetal anomalies v0.1161 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1160 CANT1 Zornitza Stark changed review comment from: Severe skeletal dysplasia, intellectual disability not a core feature of the phenotype (described in some); to: Severe skeletal dysplasia, prenatal onset of features.
Fetal anomalies v0.1160 CANT1 Zornitza Stark edited their review of gene: CANT1: Changed rating: GREEN
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Fetal anomalies v0.1159 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Fetal anomalies v0.1158 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark changed review comment from: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.; to: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.

Congenital anomalies are not a feature, clinical presentation is typically post-natal.
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark edited their review of gene: CAMTA1: Changed rating: RED
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Gene: camk2b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 54, MIM# 617799
Fetal anomalies v0.1155 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Fetal anomalies v0.1154 CAMK2B Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported. One with significant microcephaly, otherwise congenital anomalies are not specifically reported.
Fetal anomalies v0.1154 CAMK2B Zornitza Stark edited their review of gene: CAMK2B: Changed rating: AMBER
Mendeliome v0.10177 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Mendeliome v0.10177 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Mendeliome v0.10177 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Mendeliome v0.10176 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10175 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Fetal anomalies v0.1153 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10174 RNF212 Paul De Fazio reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 18239089, 29277047; Phenotypes: Recombination rate QTL 1 MIM#612042; Mode of inheritance: Unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Intellectual disability syndromic and non-syndromic v0.4357 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Intellectual disability syndromic and non-syndromic v0.4356 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4355 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1152 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Classified gene: CAMK2A as Red List (low evidence)
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1150 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 AGRP Zornitza Stark Marked gene: AGRP as ready
Mendeliome v0.10174 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10174 AGRP Zornitza Stark Phenotypes for gene: AGRP were changed from to {Leanness, inherited} 601665; {Obesity, late-onset} 601665
Mendeliome v0.10173 AGRP Zornitza Stark Classified gene: AGRP as Red List (low evidence)
Mendeliome v0.10173 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10172 AGRP Zornitza Stark reviewed gene: AGRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leanness, inherited} 601665, {Obesity, late-onset} 601665; Mode of inheritance: None
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Fetal anomalies v0.1149 CACNA1G Zornitza Stark Mode of pathogenicity for gene: CACNA1G was changed from to Other
Fetal anomalies v0.1148 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1147 CACNA1G Zornitza Stark edited their review of gene: CACNA1G: Added comment: Microcephaly in some.; Changed rating: AMBER
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Fetal anomalies v0.1146 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Fetal anomalies v0.1145 CACNA1D Zornitza Stark Mode of pathogenicity for gene: CACNA1D was changed from to Other
Fetal anomalies v0.1144 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Classified gene: CACNA1D as Green List (high evidence)
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1142 CACNA1D Zornitza Stark changed review comment from: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions.; to: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions, cardiac defects and cardiomyopathy.
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from EPILEPTIC ENCEPHALOPATHY to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Fetal anomalies v0.1141 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1139 CA5A Zornitza Stark Marked gene: CA5A as ready
Fetal anomalies v0.1139 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Fetal anomalies v0.1138 CA5A Zornitza Stark Publications for gene: CA5A were set to
Fetal anomalies v0.1137 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Fetal anomalies v0.1137 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1136 CA5A Zornitza Stark changed review comment from: Episodic metabolic decompensation rather than true ID, majority have had normal neurological outcome with appropriate treatment of acute crises.; to: Episodic metabolic decompensation, majority have had normal neurological outcome with appropriate treatment of acute crises.
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413 to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Fetal anomalies v0.1135 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Classified gene: C2CD3 as Green List (high evidence)
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Classified gene: C21orf59 as Green List (high evidence)
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Fetal anomalies v0.1131 C21orf59 Zornitza Stark changed review comment from: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population; to: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population.

Laterality defects in about half.
Mendeliome v0.10172 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mendeliome v0.10172 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mendeliome v0.10172 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mendeliome v0.10171 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mendeliome v0.10170 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1131 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Fetal anomalies v0.1131 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1130 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Fetal anomalies v0.1129 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Fetal anomalies v0.1129 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, MIM#218340
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1126 C12orf57 Zornitza Stark changed review comment from: Ocular coloboma is part of the phenotype.
Sources: Expert list; to: Talipes and hip dislocation are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.1126 BPTF Zornitza Stark Marked gene: BPTF as ready
Fetal anomalies v0.1126 BPTF Zornitza Stark Gene: bptf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1126 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Fetal anomalies v0.1125 BPTF Zornitza Stark Publications for gene: BPTF were set to
Fetal anomalies v0.1124 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1123 BPTF Zornitza Stark changed review comment from: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.; to: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.

The onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally.
Fetal anomalies v0.1123 BPTF Zornitza Stark edited their review of gene: BPTF: Changed rating: AMBER
Mendeliome v0.10169 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Mendeliome v0.10169 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mendeliome v0.10169 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mendeliome v0.10168 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mendeliome v0.10167 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Gene: bola3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Fetal anomalies v0.1122 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Fetal anomalies v0.1121 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1121 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Fetal anomalies v0.1121 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1121 BNC2 Zornitza Stark Phenotypes for gene: BNC2 were changed from Lower urinary tract obstruction, congenital, 618612 to Lower urinary tract obstruction, congenital, MIM #618612
Fetal anomalies v0.1120 BNC2 Zornitza Stark Publications for gene: BNC2 were set to
Fetal anomalies v0.1119 BNC2 Zornitza Stark Mode of inheritance for gene: BNC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1118 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Fetal anomalies v0.1118 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1117 BNC2 Zornitza Stark reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from HERMANSKY-PUDLAK SYNDROME 9 to Hermansky-Pudlak syndrome 9, MIM# 614171
Fetal anomalies v0.1116 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation of HPS in general is post-natal.
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None
Fetal anomalies v0.1114 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Fetal anomalies v0.1114 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1114 BCL9L Zornitza Stark Phenotypes for gene: BCL9L were changed from Heterotaxy to Heterotaxy; Congenital Heart Disease
Fetal anomalies v0.1113 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047
Fetal anomalies v0.1112 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Fetal anomalies v0.1112 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1112 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from NESTOR-GUILLERMO PROGERIA SYNDROME to Nestor-Guillermo progeria syndrome, MIM# 614008
Fetal anomalies v0.1111 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Fetal anomalies v0.1110 BANF1 Zornitza Stark Classified gene: BANF1 as Red List (low evidence)
Fetal anomalies v0.1110 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1109 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: RED; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Mendeliome v0.10166 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Mendeliome v0.10166 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Mendeliome v0.10165 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Mendeliome v0.10164 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1109 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1109 B9D2 Zornitza Stark Classified gene: B9D2 as Green List (high evidence)
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Marked gene: WLS as ready
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1107 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to Zaki syndrome, MIM#619648
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Microcephaly v1.82 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10163 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Mendeliome v0.10162 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.159 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Congenital Heart Defect v0.158 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.10 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1106 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Fetal anomalies v0.1106 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1106 B9D1 Zornitza Stark Publications for gene: B9D1 were set to 32622957; 24886560
Fetal anomalies v0.1105 B9D1 Zornitza Stark Classified gene: B9D1 as Green List (high evidence)
Fetal anomalies v0.1105 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555, 34338422, 21763481
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 24886560 - 2 Joubert syndrome cases
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23877401; 23359570
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Fetal anomalies v0.1101 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Fetal anomalies v0.1099 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM# 600501
Fetal anomalies v0.1098 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1097 EDNRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.
Fetal anomalies v0.1097 EDNRB Zornitza Stark edited their review of gene: EDNRB: Changed rating: GREEN
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Pierre Robin Sequence v0.40 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Pierre Robin Sequence v0.39 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.38 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from DISTAL ARTHROGRYPOSIS TYPE 5D to Arthrogryposis, distal, type 5D, MIM# 615065
Fetal anomalies v0.1096 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Mendeliome v0.10162 EBP Zornitza Stark Marked gene: EBP as ready
Mendeliome v0.10162 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Mendeliome v0.10162 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Mendeliome v0.10161 EBP Zornitza Stark Publications for gene: EBP were set to
Mendeliome v0.10160 EBP Zornitza Stark Mode of inheritance for gene: EBP 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 v0.10159 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 10391218, 10391219
Mendeliome v0.10159 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1095 EBP Zornitza Stark Marked gene: EBP as ready
Fetal anomalies v0.1095 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Fetal anomalies v0.1095 EBP Zornitza Stark Phenotypes for gene: EBP were changed from CHONDRODYSPLASIA PUNCTATA 2, X-LINKED to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Fetal anomalies v0.1094 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Fetal anomalies v0.1094 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1094 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330 to Hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Fetal anomalies v0.1093 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Fetal anomalies v0.1092 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1091 EBF3 Zornitza Stark changed review comment from: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.; to: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Microcephaly also reported.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 to Mental retardation, autosomal dominant 7, MIM# 614104
Fetal anomalies v0.1090 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Fetal anomalies v0.1089 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Fetal anomalies v0.1087 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Fetal anomalies v0.1085 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Fetal anomalies v0.1084 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10159 DYM Zornitza Stark Marked gene: DYM as ready
Mendeliome v0.10159 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Mendeliome v0.10159 DYM Zornitza Stark Phenotypes for gene: DYM were changed from to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Mendeliome v0.10158 DYM Zornitza Stark Publications for gene: DYM were set to
Mendeliome v0.10157 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12491225, 12554689, 16470731, 19005420; Phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1083 DYM Zornitza Stark Marked gene: DYM as ready
Fetal anomalies v0.1083 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Fetal anomalies v0.1083 DYM Zornitza Stark Phenotypes for gene: DYM were changed from SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark edited their review of gene: DYM: Changed phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark Publications for gene: DYM were set to
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731, 19005420
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.
Fetal anomalies v0.1081 DYM Zornitza Stark Deleted their comment
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731
Fetal anomalies v0.1081 DYM Zornitza Stark commented on gene: DYM: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests
Fetal anomalies v0.1081 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Fetal anomalies v0.1081 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1081 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ie, 608799
Fetal anomalies v0.1080 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Fetal anomalies v0.1079 DPM1 Zornitza Stark changed review comment from: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.; to: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.

Contractures also reported.
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1078 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Fetal anomalies v0.1077 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.; 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.
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078; Changed phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Fetal anomalies v0.1076 DOLK Zornitza Stark Marked gene: DOLK as ready
Fetal anomalies v0.1076 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1076 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Fetal anomalies v0.1075 DOLK Zornitza Stark Publications for gene: DOLK were set to 28816422
Fetal anomalies v0.1074 DOLK Zornitza Stark Mode of pathogenicity for gene: DOLK was changed from Other to None
Fetal anomalies v0.1073 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Fetal anomalies v0.1073 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1072 DOLK Zornitza Stark edited their review of gene: DOLK: Added comment: Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.; Changed rating: AMBER
Fetal anomalies v0.1072 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Fetal anomalies v0.1072 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Fetal anomalies v0.1072 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Fetal anomalies v0.1071 DOK7 Zornitza Stark Publications for gene: DOK7 were set to 30266093
Fetal anomalies v0.1070 DOK7 Zornitza Stark Deleted their comment
Fetal anomalies v0.1070 DOK7 Zornitza Stark edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.

Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389
Mendeliome v0.10156 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Mendeliome v0.10156 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Mendeliome v0.10156 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219
Mendeliome v0.10155 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Mendeliome v0.10154 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1070 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Fetal anomalies v0.1069 DOCK6 Zornitza Stark edited their review of gene: DOCK6: Changed publications: 21820096, 23522784, 25132448, 25824905
Fetal anomalies v0.1069 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID. Transverse limb defects.; to: Variable brain involvement, including ID. Transverse limb defects.

More than 10 unrelated families reported.
Mendeliome v0.10153 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from ADAMS-OLIVER SYNDROME 2 to Adams-Oliver syndrome 2, MIM#614219
Fetal anomalies v0.1068 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID.; to: Variable brain involvement, including ID. Transverse limb defects.
Mendeliome v0.10153 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNMT3A Zornitza Stark edited their review of gene: DNMT3A: Changed phenotypes: Tatton-Brown-Rahman syndrome, MIM# 615879, Heyn-Sproul-Jackson syndrome, MIM# 618724
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Fetal anomalies v0.1067 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Fetal anomalies v0.1066 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia 244400 to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Fetal anomalies v0.1064 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Mendeliome v0.10152 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Mendeliome v0.10152 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Mendeliome v0.10152 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Mendeliome v0.10151 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Mendeliome v0.10150 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Heterotaxy
Fetal anomalies v0.1061 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D; TRICHOTHIODYSTROPHY PHOTOSENSITIVE; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553
Fetal anomalies v0.1059 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Fetal anomalies v0.1058 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781
Mendeliome v0.10148 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781
Ciliary Dyskinesia v1.14 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781; Bronchiectasis
Ciliary Dyskinesia v1.13 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781
Fetal anomalies v0.1058 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Fetal anomalies v0.1058 NEK10 Zornitza Stark Gene: nek10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1058 NEK10 Zornitza Stark Classified gene: NEK10 as Red List (low evidence)
Fetal anomalies v0.1058 NEK10 Zornitza Stark Gene: nek10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1057 GFAP Zornitza Stark Marked gene: GFAP as ready
Fetal anomalies v0.1057 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Fetal anomalies v0.1057 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from ALEXANDER DISEASE to Alexander disease MIM#203450
Fetal anomalies v0.1056 GFAP Zornitza Stark Publications for gene: GFAP were set to
Fetal anomalies v0.1055 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10148 NFIX Zornitza Stark Marked gene: NFIX as ready
Mendeliome v0.10148 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Mendeliome v0.10148 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Mendeliome v0.10147 NFIX Zornitza Stark Publications for gene: NFIX were set to
Mendeliome v0.10146 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10145 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753), Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1054 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1053 NFIX Zornitza Stark Marked gene: NFIX as ready
Fetal anomalies v0.1053 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Fetal anomalies v0.1053 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Fetal anomalies v0.1052 NFIX Zornitza Stark Publications for gene: NFIX were set to
Fetal anomalies v0.1051 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1051 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Fetal anomalies v0.1051 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1051 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from SIALIDOSIS to Sialidosis, type I, type II (MIM#256550)
Fetal anomalies v0.1050 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Fetal anomalies v0.1049 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Fetal anomalies v0.1049 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1049 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 to Combined oxidative phosphorylation deficiency 1 MIM#609060
Fetal anomalies v0.1048 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mendeliome v0.10145 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Mendeliome v0.10145 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Mendeliome v0.10145 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Mendeliome v0.10144 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mendeliome v0.10143 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10142 GJA3 Zornitza Stark Marked gene: GJA3 as ready
Mendeliome v0.10142 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Mendeliome v0.10142 GJA3 Zornitza Stark Phenotypes for gene: GJA3 were changed from to Cataract 14, multiple types MIM#601885
Mendeliome v0.10141 GJA3 Zornitza Stark Publications for gene: GJA3 were set to
Mendeliome v0.10140 GJA3 Zornitza Stark Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10139 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Mendeliome v0.10139 NECTIN4 Zornitza Stark Gene: nectin4 has been classified as Green List (High Evidence).
Mendeliome v0.10139 NECTIN4 Zornitza Stark Phenotypes for gene: NECTIN4 were changed from to Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)
Mendeliome v0.10138 NECTIN4 Zornitza Stark Publications for gene: NECTIN4 were set to
Mendeliome v0.10137 NECTIN4 Zornitza Stark Mode of inheritance for gene: NECTIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10136 NECTIN4 Zornitza Stark reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Gene: nectin4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Phenotypes for gene: NECTIN4 were changed from ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 to Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)
Fetal anomalies v0.1046 NECTIN4 Zornitza Stark Publications for gene: NECTIN4 were set to
Fetal anomalies v0.1045 GJA3 Zornitza Stark Classified gene: GJA3 as Green List (high evidence)
Fetal anomalies v0.1045 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1044 GJA3 Zornitza Stark reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10136 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10136 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Mendeliome v0.10136 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Mendeliome v0.10136 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
Mendeliome v0.10135 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Mendeliome v0.10134 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10133 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Mendeliome v0.10133 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Mendeliome v0.10133 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD
Mendeliome v0.10132 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Mendeliome v0.10131 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 EPHB4 Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Mendeliome v0.10130 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10130 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Mendeliome v0.10129 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Mendeliome v0.10128 WNT4 Zornitza Stark Mode of inheritance for gene: WNT4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10127 WNT4 Zornitza Stark Classified gene: WNT4 as Amber List (moderate evidence)
Mendeliome v0.10127 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10126 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883, 15317892, 18182450; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1044 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Fetal anomalies v0.1044 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1044 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Fetal anomalies v0.1043 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Fetal anomalies v0.1042 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10126 WWOX Zornitza Stark Marked gene: WWOX as ready
Mendeliome v0.10126 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Mendeliome v0.10126 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Mendeliome v0.10125 WWOX Zornitza Stark Publications for gene: WWOX were set to
Mendeliome v0.10124 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574, 24369382, 34831305, 33916893; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1042 WWOX Zornitza Stark Tag SV/CNV tag was added to gene: WWOX.
Fetal anomalies v0.1042 WWOX Zornitza Stark Marked gene: WWOX as ready
Fetal anomalies v0.1042 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Fetal anomalies v0.1042 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 to Developmental and epileptic encephalopathy 28, MIM# 616211
Fetal anomalies v0.1041 WWOX Zornitza Stark Publications for gene: WWOX were set to
Fetal anomalies v0.1040 WWOX Zornitza Stark Classified gene: WWOX as Green List (high evidence)
Fetal anomalies v0.1040 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Fetal anomalies v0.1039 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 ZNF750 Zornitza Stark Marked gene: ZNF750 as ready
Mendeliome v0.10123 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10123 ZNF750 Zornitza Stark Phenotypes for gene: ZNF750 were changed from to Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227
Mendeliome v0.10122 ZNF750 Zornitza Stark Publications for gene: ZNF750 were set to
Mendeliome v0.10121 ZNF750 Zornitza Stark Mode of inheritance for gene: ZNF750 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10120 ZNF750 Zornitza Stark Classified gene: ZNF750 as Red List (low evidence)
Mendeliome v0.10120 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10119 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: 22185198, 16751772, 22936986; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Marked gene: ZNF750 as ready
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Phenotypes for gene: ZNF750 were changed from SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS to Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227
Fetal anomalies v0.1038 ZNF750 Zornitza Stark Publications for gene: ZNF750 were set to
Fetal anomalies v0.1037 ZNF750 Zornitza Stark Classified gene: ZNF750 as Red List (low evidence)
Fetal anomalies v0.1037 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1036 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence)
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.107 MCIDAS Zornitza Stark Classified gene: MCIDAS as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.107 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Classified gene: MCIDAS as Green List (high evidence)
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 GDF6 Ain Roesley reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1034 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Fetal anomalies v0.1034 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1034 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT to Multiple synostoses syndrome 4 (MIM#617898)
Fetal anomalies v0.1033 GDF6 Zornitza Stark Mode of pathogenicity for gene: GDF6 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
Fetal anomalies v0.1032 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Fetal anomalies v0.1032 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1032 GLA Zornitza Stark Marked gene: GLA as ready
Fetal anomalies v0.1032 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Fetal anomalies v0.1032 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2 to Leukodystrophy, hypomyelinating, 2 MIM#608804
Fetal anomalies v0.1031 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Fetal anomalies v0.1030 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1029 GJA3 Seb Lunke Marked gene: GJA3 as ready
Fetal anomalies v0.1029 GJA3 Seb Lunke Gene: gja3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1029 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1029 GJA3 Seb Lunke Phenotypes for gene: GJA3 were changed from CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 to Cataract 14, multiple types MIM#601885
Fetal anomalies v0.1028 GJA3 Seb Lunke Mode of inheritance for gene: GJA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1027 GJA3 Seb Lunke Classified gene: GJA3 as Red List (low evidence)
Fetal anomalies v0.1027 GJA3 Seb Lunke Gene: gja3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1026 EPHB4 Seb Lunke Marked gene: EPHB4 as ready
Fetal anomalies v0.1026 EPHB4 Seb Lunke Gene: ephb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1026 EPHB4 Seb Lunke Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD; hydrops fetalis
Fetal anomalies v0.1025 EPHB4 Seb Lunke Publications for gene: EPHB4 were set to 27400125
Fetal anomalies v0.1024 EPHB4 Seb Lunke Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1023 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Fetal anomalies v0.1023 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1023 GLA Zornitza Stark Publications for gene: GLA were set to
Fetal anomalies v0.1022 GLA Zornitza Stark Classified gene: GLA as Red List (low evidence)
Fetal anomalies v0.1022 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Marked gene: GAS2L2 as ready
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Gene: gas2l2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Classified gene: GAS2L2 as Red List (low evidence)
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Gene: gas2l2 has been classified as Red List (Low Evidence).
Mendeliome v0.10119 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Mendeliome v0.10119 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1020 NBAS Seb Lunke Marked gene: NBAS as ready
Fetal anomalies v0.1020 NBAS Seb Lunke Gene: nbas has been classified as Green List (High Evidence).
Fetal anomalies v0.1020 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Red List (low evidence)
Fetal anomalies v0.1020 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1019 NBAS Seb Lunke Phenotypes for gene: NBAS were changed from ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD to Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800); bone fragility; developmental delay; immunodeficiency; autism
Mendeliome v0.10119 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Mendeliome v0.10118 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Fetal anomalies v0.1018 NBAS Seb Lunke Publications for gene: NBAS were set to
Mendeliome v0.10117 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1017 DNAH8 Seb Lunke Marked gene: DNAH8 as ready
Fetal anomalies v0.1017 DNAH8 Seb Lunke Gene: dnah8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1017 DNAH8 Seb Lunke Phenotypes for gene: DNAH8 were changed from Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia to primary ciliary dyskinesia
Fetal anomalies v0.1016 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Fetal anomalies v0.1016 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1016 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Fetal anomalies v0.1015 DNAH8 Seb Lunke Classified gene: DNAH8 as Red List (low evidence)
Fetal anomalies v0.1015 DNAH8 Seb Lunke Gene: dnah8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Phenotypes for gene: DNAH6 were changed from heterotaxy; azoospermia to Heterotaxy
Fetal anomalies v0.1013 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Fetal anomalies v0.1013 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1012 DNAH1 Seb Lunke Marked gene: DNAH1 as ready
Fetal anomalies v0.1012 DNAH1 Seb Lunke Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1012 DNAH1 Seb Lunke Phenotypes for gene: DNAH1 were changed from Situs inversus; primary ciliary dyskinesia; infertility to Situs inversus; primary ciliary dyskinesia, MIM#617577; infertility, MIM#617576
Fetal anomalies v0.1011 DNAH1 Seb Lunke Classified gene: DNAH1 as Amber List (moderate evidence)
Fetal anomalies v0.1011 DNAH1 Seb Lunke Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Marked gene: LACC1 as ready
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1010 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1009 GLDC Zornitza Stark Marked gene: GLDC as ready
Fetal anomalies v0.1009 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1009 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from GLDC-RELATED GLYCINE ENCEPHALOPATHY to Glycine encephalopathy (MIM#605899)
Fetal anomalies v0.1008 GLI2 Seb Lunke Marked gene: GLI2 as ready
Fetal anomalies v0.1008 GLI2 Seb Lunke Gene: gli2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1008 GLDC Zornitza Stark Publications for gene: GLDC were set to
Fetal anomalies v0.1007 GLI2 Seb Lunke Phenotypes for gene: GLI2 were changed from GLI2-RELATED HOLOPROSENCEPHALY to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082
Fetal anomalies v0.1006 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Fetal anomalies v0.1006 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1005 GLI2 Seb Lunke Mode of inheritance for gene: GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1004 GLI2 Seb Lunke Publications for gene: GLI2 were set to
Fetal anomalies v0.1003 EP300 Zornitza Stark Marked gene: EP300 as ready
Fetal anomalies v0.1003 EP300 Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence).
Fetal anomalies v0.1003 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from RUBINSTEIN-TAYBI SYNDROME TYPE 2 to Rubinstein-Taybi syndrome 2, MIM# 613684; Menke-Hennekam syndrome , MIM#2 618333
Fetal anomalies v0.1002 EP300 Zornitza Stark Publications for gene: EP300 were set to
Fetal anomalies v0.1001 EP300 Zornitza Stark Mode of inheritance for gene: EP300 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1000 CFAP57 Zornitza Stark Marked gene: CFAP57 as ready
Fetal anomalies v0.1000 CFAP57 Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1000 NANS Zornitza Stark Marked gene: NANS as ready
Fetal anomalies v0.1000 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.125 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795
Review for gene: LACC1 was set to GREEN
Added comment: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported. At least 10 of the families had systemic disease, which all demonstrated increased inflammatory markers.
Sources: Literature
Fetal anomalies v0.1000 NANS Zornitza Stark Phenotypes for gene: NANS were changed from infantile-onset severe developmental delay and skeletal dysplasia to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Fetal anomalies v0.999 NANS Zornitza Stark Publications for gene: NANS were set to
Fetal anomalies v0.998 NALCN Seb Lunke Marked gene: NALCN as ready
Fetal anomalies v0.998 NALCN Seb Lunke Gene: nalcn has been classified as Green List (High Evidence).
Fetal anomalies v0.998 NALCN Seb Lunke Phenotypes for gene: NALCN were changed from HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY to Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266); Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Fetal anomalies v0.997 NALCN Seb Lunke Publications for gene: NALCN were set to
Fetal anomalies v0.996 CFAP57 Zornitza Stark Classified gene: CFAP57 as Red List (low evidence)
Fetal anomalies v0.996 CFAP57 Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence).
Fetal anomalies v0.995 NAGA Seb Lunke Marked gene: NAGA as ready
Fetal anomalies v0.995 NAGA Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10116 LACC1 Bryony Thompson changed review comment from: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature; to: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported.
Sources: Literature
Fetal anomalies v0.995 CFAP43 Seb Lunke Marked gene: CFAP43 as ready
Fetal anomalies v0.995 CFAP43 Seb Lunke Gene: cfap43 has been classified as Red List (Low Evidence).
Fetal anomalies v0.995 CFAP43 Seb Lunke Classified gene: CFAP43 as Red List (low evidence)
Fetal anomalies v0.995 CFAP43 Seb Lunke Gene: cfap43 has been classified as Red List (Low Evidence).
Fetal anomalies v0.994 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Fetal anomalies v0.994 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Green List (High Evidence).
Fetal anomalies v0.994 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 1, OMIM #602483
Fetal anomalies v0.993 GNAI3 Zornitza Stark Publications for gene: GNAI3 were set to
Fetal anomalies v0.992 GLUL Zornitza Stark Marked gene: GLUL as ready
Fetal anomalies v0.992 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Fetal anomalies v0.992 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY to Glutamine deficiency, congenital MIM#610015
Fetal anomalies v0.991 GLUL Zornitza Stark Publications for gene: GLUL were set to
Fetal anomalies v0.990 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.990 NAGA Seb Lunke Phenotypes for gene: NAGA were changed from SCHINDLER DISEASE; KANZAKI DISEASE to Kanzaki disease (MIM# 609242); Schindler disease, type I and type II (MIM#609241); alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779)
Fetal anomalies v0.989 NAGA Seb Lunke Publications for gene: NAGA were set to
Fetal anomalies v0.988 NAGA Seb Lunke Classified gene: NAGA as Amber List (moderate evidence)
Fetal anomalies v0.988 NAGA Seb Lunke Added comment: Comment on list classification: Only one description of microcephaly
Fetal anomalies v0.988 NAGA Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.987 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10116 LACC1 Bryony Thompson Marked gene: LACC1 as ready
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.986 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Fetal anomalies v0.986 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.986 BRWD1 Zornitza Stark Classified gene: BRWD1 as Red List (low evidence)
Fetal anomalies v0.986 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.985 BRWD1 Zornitza Stark reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: None
Mendeliome v0.10116 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.985 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.984 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Fetal anomalies v0.984 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Fetal anomalies v0.984 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Fetal anomalies v0.983 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Mendeliome v0.10115 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795
Review for gene: LACC1 was set to GREEN
Added comment: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature
Fetal anomalies v0.982 SCNN1G Krithika Murali gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350
Review for gene: SCNN1G was set to AMBER
Added comment: PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation

PMID 11231969 - compound het in Japanese child diagnosed as neonate

PMID 31522814 - homozygous variant identified in neonate presenting with nephropathy

PMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped.

SCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available.
Sources: Literature
Fetal anomalies v0.982 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Fetal anomalies v0.982 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.982 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17 to Deafness, autosomal dominant 17 (MIM#603622); Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100)
Mendeliome v0.10114 TRIM27 Zornitza Stark Marked gene: TRIM27 as ready
Mendeliome v0.10114 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10114 TRIM27 Zornitza Stark Phenotypes for gene: TRIM27 were changed from to parkinson's disease
Fetal anomalies v0.981 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Mendeliome v0.10113 TRIM27 Zornitza Stark Classified gene: TRIM27 as Red List (low evidence)
Mendeliome v0.10113 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10112 CR1 Zornitza Stark Marked gene: CR1 as ready
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.980 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
Fetal anomalies v0.980 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.979 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10112 CR1 Zornitza Stark Classified gene: CR1 as Red List (low evidence)
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson Marked gene: XRCC4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson Gene: xrcc4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson gene: XRCC4 was added
gene: XRCC4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25742519; 34794894
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction MIM#616541
Review for gene: XRCC4 was set to RED
Added comment: A single female case with a homozygous variant has been reported with hypogonadism as a feature of the condition.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Marked gene: WDR62 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Classified gene: WDR62 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.272 WDR62 Bryony Thompson gene: WDR62 was added
gene: WDR62 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: WDR62 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR62 were set to 34794894; 30102701
Phenotypes for gene: WDR62 were set to Primary ovarian insufficiency
Review for gene: WDR62 was set to AMBER
Added comment: Two unrelated cases with primary amenorrhea were heterozygous for a missense (p.Cys599Tyr) and a frameshift (p.Thr1068fs) variant that demonstrated a dominant-negative effect on STRA8 expression. Wdr62 -/- mice were completely infertile with reduced ovary size and absent ovarian follicles in females.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson Marked gene: UBR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson Gene: ubr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson gene: UBR2 was added
gene: UBR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: UBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR2 were set to 33095795; 34794894
Phenotypes for gene: UBR2 were set to Primary ovarian failure
Review for gene: UBR2 was set to RED
Added comment: Single POI case with a heterozygous missense variant (p.Ser1615Thr).
Sources: Literature
Mendeliome v0.10111 ASTL Zornitza Stark Marked gene: ASTL as ready
Mendeliome v0.10111 ASTL Zornitza Stark Gene: astl has been classified as Red List (Low Evidence).
Mendeliome v0.10111 ASTL Zornitza Stark gene: ASTL was added
gene: ASTL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTL were set to 34704130
Phenotypes for gene: ASTL were set to Oocyte maturation defect 11, MIM# 619643
Review for gene: ASTL was set to RED
Added comment: Oocyte maturation defect-11 (OOMD11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Single family with two affected siblings reported.
Sources: Expert list
Mendeliome v0.10110 TERB2 Zornitza Stark Marked gene: TERB2 as ready
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10110 TERB2 Zornitza Stark Classified gene: TERB2 as Amber List (moderate evidence)
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10109 TERB2 Zornitza Stark gene: TERB2 was added
gene: TERB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TERB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB2 were set to 33211200
Phenotypes for gene: TERB2 were set to Spermatogenic failure 59, MIM# 619645
Review for gene: TERB2 was set to AMBER
Added comment: One family with three affected siblings; mouse model.
Sources: Literature
Fetal anomalies v0.979 BCAS3 Zornitza Stark Marked gene: BCAS3 as ready
Fetal anomalies v0.979 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Mendeliome v0.10108 SPIDR Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence)
Mendeliome v0.10108 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.979 BCAS3 Zornitza Stark Classified gene: BCAS3 as Green List (high evidence)
Fetal anomalies v0.979 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Fetal anomalies v0.978 BCAS3 Zornitza Stark gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641
Review for gene: BCAS3 was set to GREEN
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity.

Microcephaly and CC abnormalities may be detectable antenatally.
Sources: Expert Review
Mendeliome v0.10107 SPIDR Bryony Thompson gene: SPIDR was added
gene: SPIDR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency
Review for gene: SPIDR was set to AMBER
Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Marked gene: SPIDR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.269 SPIDR Bryony Thompson gene: SPIDR was added
gene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency
Review for gene: SPIDR was set to AMBER
Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.22 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Intellectual disability syndromic and non-syndromic v0.4355 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Hereditary Spastic Paraplegia - paediatric v1.21 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4354 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.343 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Callosome v0.342 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1405 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Genetic Epilepsy v0.1404 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.82 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Microcephaly v1.81 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10106 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Mendeliome v0.10105 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Marked gene: BLM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Gene: blm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Classified gene: BLM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Gene: blm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.267 BLM Bryony Thompson gene: BLM was added
gene: BLM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLM were set to 34794894; 29056561; 28846287
Phenotypes for gene: BLM were set to Bloom syndrome MIM#210900
Review for gene: BLM was set to GREEN
gene: BLM was marked as current diagnostic
Added comment: Hypogonadism and premature menopause are reported features of the condition
Sources: Literature
Mendeliome v0.10105 REC8 Bryony Thompson Marked gene: REC8 as ready
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Marked gene: WRN as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Gene: wrn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Classified gene: WRN as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Gene: wrn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.265 WRN Bryony Thompson gene: WRN was added
gene: WRN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 34794894; 20301687
Phenotypes for gene: WRN were set to Werner syndrome MIM#277700
Review for gene: WRN was set to GREEN
gene: WRN was marked as current diagnostic
Added comment: Hypogonadism is a prominent feature of the condition, reportedly present in ~80% of cases.
Sources: Literature
Mendeliome v0.10105 REC8 Bryony Thompson Classified gene: REC8 as Amber List (moderate evidence)
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.977 ERCC2 Belinda Chong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702 9758621 11443545 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.977 ATR Zornitza Stark Marked gene: ATR as ready
Fetal anomalies v0.977 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Fetal anomalies v0.977 ATR Zornitza Stark Publications for gene: ATR were set to
Fetal anomalies v0.976 ATR Zornitza Stark Classified gene: ATR as Green List (high evidence)
Fetal anomalies v0.976 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Fetal anomalies v0.975 ATR Zornitza Stark reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Mendeliome v0.10103 REC8 Bryony Thompson gene: REC8 was added
gene: REC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Review for gene: REC8 was set to AMBER
Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: Literature
Mendeliome v0.10103 ATP6V1B2 Zornitza Stark Publications for gene: ATP6V1B2 were set to
Mendeliome v0.10102 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark edited their review of gene: ATP6V1B2: Changed phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480, Epileptic encephalopathy
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Marked gene: REC8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Classified gene: REC8 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750, 32873933; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.263 REC8 Bryony Thompson gene: REC8 was added
gene: REC8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Review for gene: REC8 was set to AMBER
Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: Literature
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480
Fetal anomalies v0.974 ATP6V1B2 Zornitza Stark Publications for gene: ATP6V1B2 were set to
Fetal anomalies v0.973 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.972 ATP6V1B2 Zornitza Stark Classified gene: ATP6V1B2 as Green List (high evidence)
Fetal anomalies v0.972 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.971 ATP6V1B2 Zornitza Stark edited their review of gene: ATP6V1B2: Changed rating: GREEN
Fetal anomalies v0.971 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley edited their review of gene: GDF6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30733656, 29130651, 26643732, 19129173, 23307924, 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominantMIM#118100, Leber congenital amaurosis 17 (MIM#615360), Microphthalmia, isolated 4 (MIM#613094), Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Marked gene: NBN as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Gene: nbn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Classified gene: NBN as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Gene: nbn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.261 NBN Bryony Thompson gene: NBN was added
gene: NBN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 34794894; 20444919
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome MIM#251260
Review for gene: NBN was set to GREEN
gene: NBN was marked as current diagnostic
Added comment: Primary ovarian insufficiency is a prominent feature of the condition for affected females.
Sources: Literature
Mendeliome v0.10101 MSH5 Bryony Thompson Classified gene: MSH5 as Green List (high evidence)
Mendeliome v0.10101 MSH5 Bryony Thompson Gene: msh5 has been classified as Green List (High Evidence).
Fetal anomalies v0.971 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Fetal anomalies v0.971 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.971 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome (OMIM # 615485)
Fetal anomalies v0.970 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Fetal anomalies v0.969 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Macrocephaly_Megalencephaly v0.98 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Macrocephaly_Megalencephaly v0.98 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.98 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190
Macrocephaly_Megalencephaly v0.97 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Mendeliome v0.10100 MSH4 Bryony Thompson Marked gene: MSH4 as ready
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.96 ASXL2 Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.95 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10100 MSH5 Bryony Thompson edited their review of gene: MSH5: Changed rating: GREEN; Changed publications: 28175301, 9916805, 24970489, 34755185; Changed phenotypes: Azoospermia, Premature ovarian failure 13 MIM#617442
Fetal anomalies v0.968 GDF6 Ain Roesley reviewed gene: GDF6: 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: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Marked gene: MSH4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4354 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Intellectual disability syndromic and non-syndromic v0.4354 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4354 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190
Intellectual disability syndromic and non-syndromic v0.4353 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Intellectual disability syndromic and non-syndromic v0.4352 ASXL2 Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4351 ASXL2 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.4351 ASXL2 Zornitza Stark commented on gene: ASXL2: Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycaemia, changes in bone mineral density, and/or seizures.

At least 7 unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.4351 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10100 MSH4 Bryony Thompson Classified gene: MSH4 as Green List (high evidence)
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Mendeliome v0.10099 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190
Mendeliome v0.10098 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Mendeliome v0.10097 ASXL2 Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10096 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Fetal anomalies v0.968 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.968 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features to Shashi-Pena syndrome, MIM# 617190
Fetal anomalies v0.967 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Mendeliome v0.10096 MSH4 Bryony Thompson gene: MSH4 was added
gene: MSH4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia
Review for gene: MSH4 was set to GREEN
Added comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Fetal anomalies v0.966 ASXL2 Zornitza Stark Classified gene: ASXL2 as Green List (high evidence)
Fetal anomalies v0.966 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.965 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Classified gene: MSH4 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.259 MSH4 Bryony Thompson gene: MSH4 was added
gene: MSH4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia
Review for gene: MSH4 was set to GREEN
Added comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Fetal anomalies v0.965 NEK10 Krithika Murali gene: NEK10 was added
gene: NEK10 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44 - MIM#618781
Review for gene: NEK10 was set to RED
Added comment: Nine individuals from 5 unrelated families with primary ciliary dyskinesia, some functional data. No features that can be ascertained antenatally reported.
Sources: Literature
Mendeliome v0.10095 ASPH Zornitza Stark Marked gene: ASPH as ready
Mendeliome v0.10095 ASPH Zornitza Stark Gene: asph has been classified as Green List (High Evidence).
Mendeliome v0.10095 ASPH Zornitza Stark Phenotypes for gene: ASPH were changed from to Traboulsi syndrome , MIM#601552
Mendeliome v0.10094 ASPH Zornitza Stark Publications for gene: ASPH were set to
Mendeliome v0.10093 ASPH Zornitza Stark Mode of inheritance for gene: ASPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10092 ASPH Zornitza Stark reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.965 ASPH Zornitza Stark Marked gene: ASPH as ready
Fetal anomalies v0.965 ASPH Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.965 ASPH Zornitza Stark Publications for gene: ASPH were set to
Fetal anomalies v0.964 ASPH Zornitza Stark reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.964 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Fetal anomalies v0.964 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.964 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder to Coffin-Siris syndrome 6, MIM# 617808
Fetal anomalies v0.963 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Fetal anomalies v0.962 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.961 ARID2 Zornitza Stark Classified gene: ARID2 as Green List (high evidence)
Fetal anomalies v0.961 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARID2 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported.

Short stature and minor dysmorphisms/congenital anomalies reported, e.g. micrognathia.
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from to Cleft palate; cleft lip with or without cleft palate
Fetal anomalies v0.960 GFAP Ain Roesley reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10091 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Mendeliome v0.10090 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10089 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip with or without cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Fetal anomalies v0.959 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Classified gene: ARHGAP29 as Green List (high evidence)
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NFIX Daniel Flanagan changed review comment from: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. Atrial septal defect; to: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome.
Fetal anomalies v0.957 NFIX Daniel Flanagan reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NEU1 Daniel Flanagan reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063730, 11829139, 14695530; Phenotypes: Sialidosis, type I, type II (MIM#256550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10089 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.106 MCIDAS Krithika Murali gene: MCIDAS was added
gene: MCIDAS was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 32802948; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695
Review for gene: MCIDAS was set to GREEN
Added comment: Gene associated with primary ciliary dyskinesia. Hydrocephalus also a reported finding.

PMID 32802948 - Retrospective cohort study for 7 consecutive patients from 3 unrelated families diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1 diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B

PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging.
Sources: Literature
Fetal anomalies v0.957 MCIDAS Krithika Murali gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 32802948; 25048963; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695
Review for gene: MCIDAS was set to GREEN
Added comment: PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging.

PMID 25048963 - 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.

PMID 32802948 - Retrospective cohort study for 7 consecutive patients diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1
diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B.
Sources: Literature
Mendeliome v0.10089 GJA3 Ain Roesley reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10205266, 15286166, 15448617, 21681855, 22312188, 22550389, 22876138; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 NECTIN4 Daniel Flanagan reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GJA3 Ain Roesley reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10089 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 EPHB4 Belinda Chong reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GAS2L2 Krithika Murali gene: GAS2L2 was added
gene: GAS2L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to ?Ciliary dyskinesia, primary, 41 - OMIM#618449
Review for gene: GAS2L2 was set to RED
Added comment: Two families with PCD and functional evidence. No mention of heterotaxy or phenotype that can be ascertained antenatally.
Sources: Literature
Mendeliome v0.10089 MEIOB Bryony Thompson Classified gene: MEIOB as Green List (high evidence)
Mendeliome v0.10089 MEIOB Bryony Thompson Gene: meiob has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Marked gene: MEIOB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Gene: meiob has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.957 GLA Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 20301469; Phenotypes: Fabry disease MIM#301500, Fabry disease, cardiac variant MIM#301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.10088 MEIOB Bryony Thompson gene: MEIOB was added
gene: MEIOB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990
Phenotypes for gene: MEIOB were set to Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency
Review for gene: MEIOB was set to GREEN
Added comment: At least 6 cases in 3 families, plus a mouse model for spermatogenic failure. A single family and a mouse model for POI.
PMID: 28206990 - 4 infertile brothers with a homozygous missense variant.
PMID: 32741963 - 2 unrelated males with complete spermatocytic arrest and homozygous truncating variants.
PMID: 24068956 - infertile male and female null mouse model.
PMID: 31000419 - Single family with a homozygous splicing variant in 2 sisters with POI.
Sources: Literature
Fetal anomalies v0.957 NBAS Daniel Flanagan reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 27789416, 29955634, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800), bone fragility, developmental delay, immunodeficiency, autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 DNAJB13 Krithika Murali gene: DNAJB13 was added
gene: DNAJB13 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to 31342671; 27486783
Phenotypes for gene: DNAJB13 were set to Primary ciliary dyskinesia
Review for gene: DNAJB13 was set to RED
Added comment: Two families reported with PCD phenotype, but no mention of heterotaxy.
Sources: Literature
Fetal anomalies v0.957 DNAH8 Krithika Murali gene: DNAH8 was added
gene: DNAH8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH8 were set to 31178125; 24307375; 32619401; 32681648
Phenotypes for gene: DNAH8 were set to Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia
Review for gene: DNAH8 was set to RED
Added comment: Associated with male infertility, primary ciliary dyskinesia - no fetal phenotype reported
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Classified gene: MEIOB as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Gene: meiob has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.257 MEIOB Bryony Thompson gene: MEIOB was added
gene: MEIOB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOB were set to 34794894; 24068956; 31000419
Phenotypes for gene: MEIOB were set to Primary ovarian insufficiency
Review for gene: MEIOB was set to AMBER
Added comment: Single family with a homozygous splicing variant in 2 affected sisters. Female null mouse model is infertile.
Sources: Literature
Mendeliome v0.10087 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 BRWD1 Krithika Murali reviewed gene: BRWD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 BRWD1 Krithika Murali Deleted their review
Fetal anomalies v0.957 DNAH6 Krithika Murali gene: DNAH6 was added
gene: DNAH6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to 26918822
Phenotypes for gene: DNAH6 were set to heterotaxy; azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

Summary: 1 convincing patient with animal model
Sources: Literature
Fetal anomalies v0.957 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 DNAH1 Krithika Murali gene: DNAH1 was added
gene: DNAH1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH1 were set to 25927852; 31507630
Phenotypes for gene: DNAH1 were set to Situs inversus; primary ciliary dyskinesia; infertility
Review for gene: DNAH1 was set to AMBER
Added comment: PMID - 25927852 x2 siblings from consanguineous Saudi family with homozygous missense variants (p.Lys1154Gln). More detailed clinical information available for proband diagnosed with Kartagener syndrome - chronic respiratory infections, situs inversus and infertility. Sister also reported to have been diagnosed with Kartagener syndrome at a similar age but no additional clinical information provided.

PMID: 31765523 - 1 patient with PCD with a single het missense.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. Microscopy of sperm revealed dynein disorganization

PMID: 31507630 - 1 chet patient with kartagener syndrome, a subtype of PCD. Variants were classified as VUS initially - now c.442C>T (p.Arg148Cys) remains VUS, c.3103C > T p.R1035C re-classified as likely benign. Additional patient was het for a single nonsense, authors acknowledge missed 2nd hit and that this alone was not causative.

Currently listed as red gene in Heterotaxy panel
Sources: Literature
Fetal anomalies v0.957 GLDC Ain Roesley reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 2246863, 1634607; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GLI2 Ain Roesley reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EP300 Belinda Chong reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10087 HELQ Bryony Thompson Marked gene: HELQ as ready
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10087 HELQ Bryony Thompson Deleted their comment
Mendeliome v0.10087 HELQ Bryony Thompson commented on gene: HELQ: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Fetal anomalies v0.957 CFAP74 Krithika Murali gene: CFAP74 was added
gene: CFAP74 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP74 were set to 32555313
Phenotypes for gene: CFAP74 were set to infertility; primary ciliary dyskinesia
Review for gene: CFAP74 was set to RED
Added comment: Compound het missense variants identified in 2 unrelated patients presenting with male infertility, chronic bronchiectasis and frequent sinusitis.
Sources: Literature
Fetal anomalies v0.957 NANS Daniel Flanagan reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27213289; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10087 HELQ Bryony Thompson Classified gene: HELQ as Amber List (moderate evidence)
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10086 HELQ Bryony Thompson gene: HELQ was added
gene: HELQ was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELQ were set to 34794894; 24005329; 33095795
Phenotypes for gene: HELQ were set to Primary ovarian insufficiency
Review for gene: HELQ was set to AMBER
Added comment: Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Marked gene: HELQ as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Classified gene: HELQ as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.255 HELQ Bryony Thompson gene: HELQ was added
gene: HELQ was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELQ were set to 34794894; 24005329; 33095795
Phenotypes for gene: HELQ were set to Primary ovarian insufficiency
Review for gene: HELQ was set to AMBER
Added comment: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Sources: Literature
Fetal anomalies v0.957 CFAP57 Krithika Murali gene: CFAP57 was added
gene: CFAP57 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFAP57 were set to 21574244; 32764743
Phenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like
Review for gene: CFAP57 was set to RED
Added comment: Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis)

x1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.254 FANCL Bryony Thompson Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.253 FANCL Bryony Thompson Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 FANCL Bryony Thompson Classified gene: FANCL as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 FANCL Bryony Thompson Gene: fancl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCL Bryony Thompson edited their review of gene: FANCL: Changed publications: 32048394, 32851770, 11823446, 33095795, 34794894; Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group L MIM#614083; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCL Bryony Thompson changed review comment from: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature; to: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. Also, homozygous frameshift insertion identified in a POI case without any known features of fanconi anaemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature
Fetal anomalies v0.957 NALCN Daniel Flanagan reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266), Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Marked gene: FANCC as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Gene: fancc has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Classified gene: FANCC as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Gene: fancc has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.250 FANCC Bryony Thompson gene: FANCC was added
gene: FANCC was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 34794894; 8630504
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C MIM#227645
Review for gene: FANCC was set to AMBER
Added comment: Hypergonadotropic hypogonadism is listed as a genitourinary feature of the condition. A null mouse model has compromised gametogenesis.
Sources: Literature
Fetal anomalies v0.957 CFAP43 Krithika Murali gene: CFAP43 was added
gene: CFAP43 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Review for gene: CFAP43 was set to RED
Added comment: Associated with infertility. Only adult-onset hydrocephalus reported.
Sources: Literature
Fetal anomalies v0.957 GLUL Ain Roesley reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16267323, 21353613, 33150193; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.249 FANCA Bryony Thompson Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.248 FANCA Bryony Thompson Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson changed review comment from: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Sources: Literature; to: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Hypergonadotropic hypogonadism is listed as an endocrine feature of the Fanconi anaemia phenotype in OMIM.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson edited their review of gene: FANCA: Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group A MIM#227650; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Marked gene: FANCA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Classified gene: FANCA as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.957 GNAI3 Ain Roesley reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 BRWD1 Krithika Murali gene: BRWD1 was added
gene: BRWD1 was added to Fetal anomalies. Sources: Expert list,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 Situs inversus; primary ciliary dyskinesia like
Review for gene: BRWD1 was set to GREEN
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).
Sources: Expert list, Literature
Fetal anomalies v0.957 NAGA Daniel Flanagan reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease (MIM# 609242), Schindler disease, type I and type II (MIM#609241), alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GNPAT Ain Roesley 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; Current diagnostic: yes
Mendeliome v0.10085 TRIM27 Ain Roesley reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: 34419804; Phenotypes: parkinson's disease; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4351 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Intellectual disability syndromic and non-syndromic v0.4351 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4351 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Intellectual disability syndromic and non-syndromic v0.4350 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Intellectual disability syndromic and non-syndromic v0.4349 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4348 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Classified gene: ARFGEF2 as Green List (high evidence)
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.955 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.955 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Fetal anomalies v0.955 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Fetal anomalies v0.955 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Fetal anomalies v0.954 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Fetal anomalies v0.953 AP4S1 Zornitza Stark Classified gene: AP4S1 as Green List (high evidence)
Fetal anomalies v0.953 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Fetal anomalies v0.952 AP4S1 Zornitza Stark changed review comment from: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 families reported and a zebrafish model.; to: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. More than 10 families reported and a zebrafish model.

Microcephaly is a feature.
Fetal anomalies v0.952 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Fetal anomalies v0.952 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Fetal anomalies v0.952 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Fetal anomalies v0.951 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Fetal anomalies v0.950 AP4M1 Zornitza Stark Classified gene: AP4M1 as Green List (high evidence)
Fetal anomalies v0.950 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Fetal anomalies v0.949 AP4M1 Zornitza Stark changed review comment from: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.; to: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.949 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Fetal anomalies v0.949 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.949 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725
Fetal anomalies v0.948 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Fetal anomalies v0.947 AP4B1 Zornitza Stark Classified gene: AP4B1 as Green List (high evidence)
Fetal anomalies v0.947 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.946 AP4B1 Zornitza Stark changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Microcephaly v1.81 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Microcephaly v1.81 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Microcephaly v1.81 AP3B2 Zornitza Stark Classified gene: AP3B2 as Green List (high evidence)
Microcephaly v1.81 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Mendeliome v0.10085 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Mendeliome v0.10085 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Microcephaly v1.80 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B2 were set to 27431290; 27866705; 32705489
Phenotypes for gene: AP3B2 were set to Developmental and epileptic encephalopathy 48, MIM# 617276
Review for gene: AP3B2 was set to GREEN
Added comment: More than 9 unrelated families reported. Disorder is characterised by ID, epilepsy, optic atrophy and microcephaly in some.
Sources: Expert Review
Mendeliome v0.10085 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Developmental and epileptic encephalopathy 48, MIM# 617276
Mendeliome v0.10084 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Mendeliome v0.10083 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10082 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Developmental and epileptic encephalopathy 48, MIM# 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.946 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Fetal anomalies v0.946 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.946 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from Epileptic Encephalopathy with Optic Atrophy to Developmental and epileptic encephalopathy 48, MIM# 617276
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Arthrogryposis v0.315 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to 12973667; 14508707
Arthrogryposis v0.314 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Fetal anomalies v0.945 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Fetal anomalies v0.944 AP3B2 Zornitza Stark changed review comment from: At least 8 unrelated families reported.; to: At least 8 unrelated families reported. Onset of symptoms is post-natal. Microcephaly reported in some, though onset is unclear.
Fetal anomalies v0.944 MYH9 Daniel Flanagan reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17 (MIM#603622), Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.944 AP3B2 Zornitza Stark edited their review of gene: AP3B2: Changed rating: AMBER
Arthrogryposis v0.313 ANTXR2 Zornitza Stark Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.312 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Mendeliome v0.10082 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Mendeliome v0.10082 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Mendeliome v0.10082 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Mendeliome v0.10081 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Mendeliome v0.10080 ANTXR2 Zornitza Stark Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10079 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome 228600 to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Fetal anomalies v0.943 ANTXR2 Zornitza Stark Classified gene: ANTXR2 as Green List (high evidence)
Fetal anomalies v0.943 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.942 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.942 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Fetal anomalies v0.942 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Fetal anomalies v0.942 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Fetal anomalies v0.941 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from Nephronophthisis 16, 615382 to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Mendeliome v0.10079 CR1 Ain Roesley reviewed gene: CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.940 ANKS6 Zornitza Stark Classified gene: ANKS6 as Green List (high evidence)
Fetal anomalies v0.940 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from THROMBOCYTOPENIA 2 to Thrombocytopaenia 2, MIM# 188000
Fetal anomalies v0.938 ANKRD26 Zornitza Stark Publications for gene: ANKRD26 were set to
Fetal anomalies v0.937 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.936 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence)
Fetal anomalies v0.936 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Fetal anomalies v0.935 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WNT4 Chloe Stutterd reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 16959810, 15317892, 18182450; Phenotypes: 158330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WWOX Chloe Stutterd reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33916893; Phenotypes: 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.935 ZNF750 Chloe Stutterd reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: Smit, C., Bütow, K. W., Naidoo, S., & Olorunju, S. (2019). Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts. Clinical Neurology and Neuroscience, 3(3), 58.; Phenotypes: 610227; Mode of inheritance: None
Dystonia - complex v0.199 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.28 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Craniosynostosis v1.28 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Craniosynostosis v1.28 GNB1 Zornitza Stark Classified gene: GNB1 as Green List (high evidence)
Craniosynostosis v1.28 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Craniosynostosis v1.27 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 32134617
Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Review for gene: GNB1 was set to GREEN
Added comment: Over 50 affected individuals reported. Cleft palate present in >20%.
Sources: Literature
Clefting disorders v0.160 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Clefting disorders v0.160 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1404 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Genetic Epilepsy v0.1404 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Clefting disorders v0.160 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Clefting disorders v0.159 GNB1 Zornitza Stark Publications for gene: GNB1 were set to 27108799
Clefting disorders v0.158 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.157 GNB1 Zornitza Stark Classified gene: GNB1 as Green List (high evidence)
Clefting disorders v0.157 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Clefting disorders v0.156 GNB1 Zornitza Stark reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32134617; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1404 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Genetic Epilepsy v0.1403 GNB1 Zornitza Stark Publications for gene: GNB1 were set to 32134617
Fetal anomalies v0.935 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Fetal anomalies v0.935 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.935 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Genetic Epilepsy v0.1403 GNB1 Zornitza Stark Publications for gene: GNB1 were set to
Fetal anomalies v0.934 GNB1 Zornitza Stark Publications for gene: GNB1 were set to
Fetal anomalies v0.933 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.932 GNB1 Zornitza Stark changed review comment from: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.; to: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.

Multiple congenital anomalies, including cleft palate, congenital heart disease and craniosynostosis reported.
Genetic Epilepsy v0.1402 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1401 GNB1 Zornitza Stark reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32134617; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.932 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Fetal anomalies v0.932 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Fetal anomalies v0.932 GDF11 Zornitza Stark Classified gene: GDF11 as Green List (high evidence)
Fetal anomalies v0.932 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Fetal anomalies v0.931 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Review for gene: GDF11 was set to GREEN
Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.
Sources: Expert Review
Mendeliome v0.10079 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Mendeliome v0.10079 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Mendeliome v0.10079 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Mendeliome v0.10078 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Mendeliome v0.10077 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10076 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.156 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Clefting disorders v0.156 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.156 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Amber List (moderate evidence)
Clefting disorders v0.156 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.155 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Clefting disorders. Sources: Expert Review
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, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184
Review for gene: SCUBE3 was set to AMBER
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. Mouse model recapitulated phenotype.

Clefting reported in 3 individuals.
Sources: Expert Review
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofacial digital syndrome type IX
Fetal anomalies v0.929 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Fetal anomalies v0.929 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Fetal anomalies v0.928 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284; Phenotypes: Orofacial digital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.15 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556
Ciliopathies v1.14 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Ciliopathies v1.14 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Ciliopathies v1.13 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Three reported families with ciliopathy phenotype.; Changed rating: GREEN; Changed publications: 24285566, 32573025, 32060556, 31130284
Mendeliome v0.10076 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Orofaciodigital syndrome type IX; syndromic hypopituitarism
Mendeliome v0.10075 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556
Mendeliome v0.10074 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Mendeliome v0.10074 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Changed rating: GREEN
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Further report of ciliopathy phenotype in PMID 31130284.; Changed publications: 24285566, 32573025, 32060556, 31130284
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Marked gene: BLOC1S1 as ready
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Classified gene: BLOC1S1 as Green List (high evidence)
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10072 BLOC1S1 Zornitza Stark gene: BLOC1S1 was added
gene: BLOC1S1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 33875846
Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy
Review for gene: BLOC1S1 was set to GREEN
Added comment: 4 individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4348 BLOC1S1 Zornitza Stark Marked gene: BLOC1S1 as ready
Intellectual disability syndromic and non-syndromic v0.4348 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4348 BLOC1S1 Zornitza Stark Classified gene: BLOC1S1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4348 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4347 BLOC1S1 Zornitza Stark gene: BLOC1S1 was added
gene: BLOC1S1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 33875846
Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy
Review for gene: BLOC1S1 was set to GREEN
Added comment: 4 individuals reported.
Sources: Literature
Mendeliome v0.10071 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Mendeliome v0.10071 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Mendeliome v0.10071 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490
Mendeliome v0.10070 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Mendeliome v0.10069 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10068 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.928 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4346 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4346 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4346 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4346 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4345 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Intellectual disability syndromic and non-syndromic v0.4345 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4345 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features. Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: Literature
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.1 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: Literature
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.1 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: Literature
Hypertrophic cardiomyopathy_HCM v0.160 GYG1 Zornitza Stark Marked gene: GYG1 as ready
Hypertrophic cardiomyopathy_HCM v0.160 GYG1 Zornitza Stark Gene: gyg1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy_HCM v0.160 GYG1 Zornitza Stark Classified gene: GYG1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy_HCM v0.160 GYG1 Zornitza Stark Gene: gyg1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy_HCM v0.159 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 27718144; 20357282; 31628455
Phenotypes for gene: GYG1 were set to Hypertrophic Cardiomyopathy
Review for gene: GYG1 was set to AMBER
Added comment: 4 unrelated patients described in these reports with homozygous/compound het mutations in GYG1. All had a form of HCM, with extensive scarring, arrhythmia. Histological studies reveal storage of glycogen & polyglycosan associated with mutated glycogenin 1 within cardiac myocytes. The 3 patients in PMID 27718144 did not have overt skeletal myopathy. Other patients with mutations in this gene have had skeletal myopathy without cardiomyopathy. The cause for this variable expression is not entirely clear. The sister of one patient carried the homozygous mutation, but was asymptomatic.

Well established gene-disease association with glycogen storage disorder, primarily affecting skeletal muscle.
Sources: Expert Review
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Ataxia - paediatric v0.297 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083; 33798445; 34182312; 34382076
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Review for gene: DHDDS was set to GREEN
Added comment: Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia - at least 11 unrelated cases of ataxia reported in literature.
Sources: Literature
Fetal anomalies v0.927 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Fetal anomalies v0.927 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Fetal anomalies v0.927 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Fetal anomalies v0.927 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Fetal anomalies v0.926 TMEM260 Zornitza Stark changed review comment from: Two families reported; predominant phenotype is that of complex severe congenital heart disease and renal anomalies. Although corpus callosum abnormalities/microcephaly were described in some, DD/ID not specifically reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Fetal anomalies v0.926 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517
Mendeliome v0.10068 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Congenital Heart Defect v0.158 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families with complex severe congenital heart disease.
Sources: Expert list; to: Seven unrelated families with complex severe congenital heart disease. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families reported.
Sources: Expert Review; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to 28318500
Congenital Heart Defect v0.158 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Congenital Heart Defect v0.158 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.157 TMEM260 Zornitza Stark changed review comment from: Two unrelated families with complex severe congenital heart disease.
Sources: Expert list; to: Seven unrelated families with complex severe congenital heart disease.
Sources: Expert list
Congenital Heart Defect v0.157 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Mendeliome v0.10068 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Mendeliome v0.10068 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN
Mendeliome v0.10067 TMEM260 Zornitza Stark changed review comment from: Two unrelated families reported.; to: Seven unrelated families reported.
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed publications: 28318500, 34612517
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert Review; to: Seven unrelated families reported.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 28318500
Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478
Review for gene: TMEM260 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4344 SNIP1 Zornitza Stark Classified gene: SNIP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4344 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4343 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER
Genetic Epilepsy v0.1401 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Genetic Epilepsy v0.1401 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1401 SNIP1 Zornitza Stark Classified gene: SNIP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1401 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1400 SNIP1 Zornitza Stark gene: SNIP1 was added
gene: SNIP1 was added to Genetic Epilepsy. Sources: Expert Review
founder tags were added to gene: SNIP1.
Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNIP1 were set to 22279524; 34570759
Phenotypes for gene: SNIP1 were set to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Review for gene: SNIP1 was set to AMBER
Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.
Sources: Expert Review
Mendeliome v0.10067 SNIP1 Zornitza Stark Classified gene: SNIP1 as Amber List (moderate evidence)
Mendeliome v0.10067 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER; Changed publications: 22279524, 34570759
Fetal anomalies v0.926 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.926 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.925 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Fetal anomalies v0.924 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Fetal anomalies v0.924 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Fetal anomalies v0.924 CSF1R Zornitza Stark Classified gene: CSF1R as Green List (high evidence)
Fetal anomalies v0.924 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Fetal anomalies v0.923 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Review for gene: CSF1R was set to GREEN
Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.
Sources: Literature
Fetal anomalies v0.922 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Fetal anomalies v0.922 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Fetal anomalies v0.922 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Fetal anomalies v0.922 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Fetal anomalies v0.921 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Expert Review
Mendeliome v0.10066 TAF4 Zornitza Stark Marked gene: TAF4 as ready
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 TAF4 Zornitza Stark Classified gene: TAF4 as Amber List (moderate evidence)
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10065 TAF4 Zornitza Stark gene: TAF4 was added
gene: TAF4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846; 28191890
Phenotypes for gene: TAF4 were set to Neurodevelopmental disorder
Review for gene: TAF4 was set to AMBER
Added comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4343 TAF4 Zornitza Stark Marked gene: TAF4 as ready
Intellectual disability syndromic and non-syndromic v0.4343 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4343 TAF4 Zornitza Stark Classified gene: TAF4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4343 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4342 TAF4 Zornitza Stark gene: TAF4 was added
gene: TAF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846; 28191890
Phenotypes for gene: TAF4 were set to Neurodevelopmental disorder
Review for gene: TAF4 was set to AMBER
Added comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available.
Sources: Literature
Mendeliome v0.10064 RAB11A Zornitza Stark Publications for gene: RAB11A were set to 29100083
Mendeliome v0.10063 RAB11A Zornitza Stark Classified gene: RAB11A as Green List (high evidence)
Mendeliome v0.10063 RAB11A Zornitza Stark Gene: rab11a has been classified as Green List (High Evidence).
Mendeliome v0.10062 RAB11A Zornitza Stark edited their review of gene: RAB11A: Added comment: Two additional cases reported.; Changed rating: GREEN; Changed publications: 29100083, 33875846
Intellectual disability syndromic and non-syndromic v0.4341 RAB11A Zornitza Stark Classified gene: RAB11A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4341 RAB11A Zornitza Stark Gene: rab11a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4340 RAB11A Zornitza Stark edited their review of gene: RAB11A: Added comment: Two additional cases reported in PMID 33875846.; Changed rating: GREEN; Changed publications: 29100083, 33875846
Microcephaly v1.79 PLK1 Zornitza Stark Marked gene: PLK1 as ready
Microcephaly v1.79 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Microcephaly v1.79 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Microcephaly v1.79 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Microcephaly v1.78 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Genetic Epilepsy v0.1399 PLK1 Zornitza Stark Marked gene: PLK1 as ready
Genetic Epilepsy v0.1399 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1399 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Genetic Epilepsy v0.1399 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1398 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Mendeliome v0.10062 PLK1 Zornitza Stark Marked gene: PLK1 as ready
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10062 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10061 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4340 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4340 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4339 PLK1 Zornitza Stark Marked gene: PLK1 as ready
Intellectual disability syndromic and non-syndromic v0.4339 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4339 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4339 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4338 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Mendeliome v0.10060 RAP1GDS1 Zornitza Stark Publications for gene: RAP1GDS1 were set to 32431071
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Green List (high evidence)
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846
Intellectual disability syndromic and non-syndromic v0.4337 RAP1GDS1 Zornitza Stark Publications for gene: RAP1GDS1 were set to 32431071
Fetal anomalies v0.920 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Fetal anomalies v0.920 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4336 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4336 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4335 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846
Fetal anomalies v0.920 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Fetal anomalies v0.920 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Fetal anomalies v0.919 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Fetal anomalies. Sources: Expert Review
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 Faundes-Banka syndrome, MIM# 619376; 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: Expert Review
Fetal anomalies v0.918 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Fetal anomalies v0.918 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.918 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Fetal anomalies v0.918 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.917 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert Review
Mendeliome v0.10058 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Mendeliome v0.10058 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650
Mendeliome v0.10057 PRRX1 Zornitza Stark Publications for gene: PRRX1 were set to
Mendeliome v0.10056 PRRX1 Zornitza Stark Mode of inheritance for gene: PRRX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10055 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294718, 22211708, 22674740, 23444262; Phenotypes: Agnathia-otocephaly complex, MIM# 202650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.916 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Fetal anomalies v0.916 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.916 PRRX1 Zornitza Stark Classified gene: PRRX1 as Green List (high evidence)
Fetal anomalies v0.916 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.915 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex, MIM# 202650
Review for gene: PRRX1 was set to GREEN
Added comment: Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.

Three unrelated individuals reported with heterozygous LoF variants, one family with bi-allelic variants.
Sources: Expert Review
Mandibulofacial Acrofacial dysostosis v1.0 PRRX1 Zornitza Stark edited their review of gene: PRRX1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine 617301; Arthrogryposis
Fetal anomalies v0.913 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Fetal anomalies v0.912 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Fetal anomalies v0.912 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Fetal anomalies v0.911 SLC6A9 Zornitza Stark Deleted their comment
Fetal anomalies v0.911 SLC6A9 Zornitza Stark commented on gene: SLC6A9: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family)
Fetal anomalies v0.911 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555; Changed phenotypes: Glycine encephalopathy with normal serum glycine 617301, Arthrogryposis
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, MIM# 616938
Arthrogryposis v0.312 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to 27773429; 27481395
Arthrogryposis v0.311 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Arthrogryposis v0.311 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Arthrogryposis v0.310 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Added comment: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family); Changed rating: GREEN; Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555
Fetal anomalies v0.910 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Classified gene: SMARCE1 as Green List (high evidence)
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.908 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215
Fetal anomalies v0.908 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.210 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.210 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.209 MMP15 Zornitza Stark gene: MMP15 was added
gene: MMP15 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Congenital Heart Defect v0.157 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Congenital Heart Defect v0.157 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.157 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Congenital Heart Defect v0.157 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.156 MMP15 Zornitza Stark gene: MMP15 was added
gene: MMP15 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Mendeliome v0.10055 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10055 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10054 MMP15 Zornitza Stark gene: MMP15 was added
gene: MMP15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.39 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Expert Review
Mendeliome v0.10053 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10053 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10052 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Literature
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10051 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Mendeliome v0.10051 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Mendeliome v0.10051 AXIN2 Zornitza Stark Phenotypes for gene: AXIN2 were changed from to Oligodontia-colorectal cancer syndrome, MIM# 608615
Bone Marrow Failure v1.8 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Literature
Mendeliome v0.10050 AXIN2 Zornitza Stark Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10049 AXIN2 Zornitza Stark reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598, 34637023; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Classified gene: AXIN2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.60 AXIN2 Zornitza Stark gene: AXIN2 was added
gene: AXIN2 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXIN2 were set to 15042511; 21626677; 21416598; 34637023
Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, MIM# 608615
Review for gene: AXIN2 was set to AMBER
Added comment: Variants are associated with tooth agenesis (PMID: 15042511; 21626677; 30671715; 32807118), often additionally with colon polyps and colorectal cancer. Two families have been identified with concurrent ectodermal dysplasia including sparse or brittle hair and/or eyebrows and dry skin (PMID: 21416598; 34637023).
Sources: Expert Review
Oligodontia v0.9 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Oligodontia v0.9 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4335 TMEM218 Zornitza Stark Marked gene: TMEM218 as ready
Intellectual disability syndromic and non-syndromic v0.4335 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Oligodontia v0.9 AXIN2 Zornitza Stark Phenotypes for gene: AXIN2 were changed from to Oligodontia-colorectal cancer syndrome, MIM# 608615
Oligodontia v0.8 AXIN2 Zornitza Stark Publications for gene: AXIN2 were set to
Oligodontia v0.7 AXIN2 Zornitza Stark Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oligodontia v0.6 AXIN2 Zornitza Stark reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4335 TMEM218 Zornitza Stark Classified gene: TMEM218 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4335 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4334 TMEM218 Zornitza Stark gene: TMEM218 was added
gene: TMEM218 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 33791682; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Expert Review
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v0.907 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Fetal anomalies v0.907 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.2 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Severe early-onset obesity. Sources: Expert Review
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIDINS220 were set to 27005418; 29667355; 33763417
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Review for gene: KIDINS220 was set to GREEN
Added comment: Seven individuals from five unrelated families have been reported with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome (OMIM:617296) associated with monoallelic variants in the KIDINS220 gene. Phenotypes include early-onset obesity.
Sources: Expert Review
Leukodystrophy - paediatric v0.240 ELOVL1 Zornitza Stark Classified gene: ELOVL1 as Green List (high evidence)
Leukodystrophy - paediatric v0.240 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.239 ELOVL1 Zornitza Stark gene: ELOVL1 was added
gene: ELOVL1 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Review for gene: ELOVL1 was set to GREEN
Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.

Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model.
Sources: Literature
Mendeliome v0.10049 ADK Zornitza Stark Publications for gene: ADK were set to 21963049; 17120046
Mendeliome v0.10048 ADK Zornitza Stark commented on gene: ADK: Three additional families reported, liver disease prominent.
Mendeliome v0.10048 ADK Zornitza Stark edited their review of gene: ADK: Changed publications: 21963049, 17120046, 33309011
Cholestasis v0.208 ADK Zornitza Stark Publications for gene: ADK were set to 21963049; 17120046
Cholestasis v0.207 ADK Zornitza Stark Classified gene: ADK as Green List (high evidence)
Cholestasis v0.207 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Cholestasis v0.206 ADK Zornitza Stark edited their review of gene: ADK: Added comment: Additional cases with neonatal cholestasis.; Changed rating: GREEN; Changed publications: 21963049, 17120046, 33309011
Microcephaly v1.77 ATP9A Zornitza Stark Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Microcephaly v1.76 ATP9A Zornitza Stark Classified gene: ATP9A as Green List (high evidence)
Microcephaly v1.76 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Microcephaly v1.75 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: Four unrelated families and mouse model.; Changed rating: GREEN; Changed publications: 34379057, 34764295
Mendeliome v0.10048 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Mendeliome v0.10048 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Mendeliome v0.10048 ATP9A Zornitza Stark Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Mendeliome v0.10047 ATP9A Zornitza Stark Classified gene: ATP9A as Green List (high evidence)
Mendeliome v0.10047 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4333 ATP9A Zornitza Stark Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Mendeliome v0.10046 ATP9A Zornitza Stark reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34379057, 34764295; Phenotypes: Neurodevelopmental delay, Postnatal microcephaly, Failure to thrive, Gastrointestinal symptoms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4332 ATP9A Zornitza Stark Classified gene: ATP9A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4332 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4331 ATP9A Zornitza Stark edited their review of gene: ATP9A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4331 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: Four unrelated families and mouse model.; Changed publications: 34379057, 34764295
Mendeliome v0.10046 ECM1 Zornitza Stark Marked gene: ECM1 as ready
Mendeliome v0.10046 ECM1 Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence).
Mendeliome v0.10046 ECM1 Zornitza Stark Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease #247100
Mendeliome v0.10045 ECM1 Zornitza Stark Publications for gene: ECM1 were set to
Mendeliome v0.10044 ECM1 Zornitza Stark changed review comment from: PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.; to: Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane

PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.
Mendeliome v0.10044 ECM1 Zornitza Stark Mode of inheritance for gene: ECM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 ECM1 Zornitza Stark reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease #247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset
Mendeliome v0.10042 SMPX Zornitza Stark Publications for gene: SMPX were set to 21549342; 21549336; 21893181; 22911656; 28542515
Mendeliome v0.10041 SMPX Zornitza Stark edited their review of gene: SMPX: Added comment: PMID 33974137: Four different missense variants were identified in ten patients from nine families in five different countries. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.; Changed publications: 21549342, 21549336, 21893181, 22911656, 28542515, 33974137; Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Distal myopathy, adult-onset
Growth failure v1.23 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Growth failure v1.23 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Growth failure v1.23 KANSL1 Zornitza Stark Classified gene: KANSL1 as Green List (high evidence)
Growth failure v1.23 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Growth failure v1.22 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Growth failure. Sources: Expert Review
SV/CNV tags were added to gene: KANSL1.
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KANSL1 were set to 22544363
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome (MIM#610443)
Review for gene: KANSL1 was set to GREEN
Added comment: Well established gene-disease association. Short stature in around a third of affected individuals.
Sources: Expert Review
Mendeliome v0.10041 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Erythrocytosis
Mendeliome v0.10040 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 26333996
Mendeliome v0.10039 PIEZO1 Zornitza Stark reviewed gene: PIEZO1: 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: 33181827; Phenotypes: Erythrocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.8 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Erythrocytosis
Red cell disorders v1.7 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 22529292; 21944700; 23695678; 23479567
Red cell disorders v1.6 PIEZO1 Zornitza Stark edited their review of gene: PIEZO1: Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis.; Changed publications: 21944700, 23695678, 23479567, 33181827; Changed phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380, Erythrocytosis
Red cell disorders v1.6 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Red cell disorders v1.6 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Red cell disorders v1.6 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Green List (high evidence)
Red cell disorders v1.6 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Red cell disorders v1.5 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Red cell disorders. Sources: Expert Review
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972; 22341971; 29193034
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Erythrocytosis/polycythaemia is a feature.
Sources: Expert Review
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Classified gene: COQ4 as Green List (high evidence)
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.295 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 30225196; 33704555; 30847826
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Childhood-onset ataxia
Review for gene: COQ4 was set to GREEN
Added comment: At least 6 individuals from 4 families reported as having ataxia.
Sources: Literature
Mendeliome v0.10039 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Mendeliome v0.10039 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Mendeliome v0.10039 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Mendeliome v0.10038 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Mendeliome v0.10037 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 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)
Intellectual disability syndromic and non-syndromic v0.4331 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Intellectual disability syndromic and non-syndromic v0.4331 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4331 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Mendeliome v0.10036 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4330 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Intellectual disability syndromic and non-syndromic v0.4329 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 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 v0.10036 FGF5 Zornitza Stark Marked gene: FGF5 as ready
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4328 CNKSR2 Zornitza Stark edited their review of gene: CNKSR2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4328 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: None
Mendeliome v0.10036 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10035 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Marked gene: FGF5 as ready
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.34 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Hypertrichosis syndromes. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Mendeliome v0.10034 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37, MIM# 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant
Mendeliome v0.10033 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Mendeliome v0.10032 ANK3 Zornitza Stark Classified gene: ANK3 as Green List (high evidence)
Mendeliome v0.10032 ANK3 Zornitza Stark Gene: ank3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4328 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant
Mendeliome v0.10031 ANK3 Zornitza Stark edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362; Changed phenotypes: Mental retardation, autosomal recessive, 37 615493, Intellectual disability, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.4327 ANK3 Zornitza Stark Classified gene: ANK3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4327 ANK3 Zornitza Stark Gene: ank3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4326 ANK3 Zornitza Stark edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362
Intellectual disability syndromic and non-syndromic v0.4326 OGDHL Zornitza Stark Marked gene: OGDHL as ready
Intellectual disability syndromic and non-syndromic v0.4326 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4326 OGDHL Zornitza Stark Classified gene: OGDHL as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4326 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Marked gene: OGDHL as ready
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Classified gene: OGDHL as Green List (high evidence)
Deafness_IsolatedAndComplex v1.104 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10031 HIBADH Zornitza Stark Marked gene: HIBADH as ready
Mendeliome v0.10031 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Mendeliome v0.10031 HIBADH Zornitza Stark gene: HIBADH was added
gene: HIBADH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to Organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Mendeliome v0.10030 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy
Mendeliome v0.10029 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467; 25925986; 32548278
Mendeliome v0.10028 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10027 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Added comment: Association between mono-allelic variants and adult-onset leukoencephalopathy:

LAMB1 variants found in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All have white matter hypersignals. ‘These variants are associated with a novel phenotype characterized by the association of a hippocampal type episodic memory defect and a diffuse vascular leukoencephalopathy.’; Changed publications: 23472759, 25925986, 29888467, 25925986, 32548278, 34606115; Changed phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy, Adult-onset leukoencephalopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.155 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Congenital Heart Defect v0.155 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.155 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Congenital Heart Defect v0.154 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Congenital Heart Defect v0.153 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.152 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: None
Fetal anomalies v0.906 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Fetal anomalies v0.906 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Fetal anomalies v0.906 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Fetal anomalies v0.905 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Fetal anomalies v0.904 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.903 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.93 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Rasopathy v0.93 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Rasopathy v0.93 TAB2 Zornitza Stark Classified gene: TAB2 as Green List (high evidence)
Rasopathy v0.93 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Cardiomyopathy_Paediatric v0.115 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Cardiomyopathy_Paediatric v0.114 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.113 TAB2 Zornitza Stark Classified gene: TAB2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.113 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Microcephaly v1.75 FOXR1 Zornitza Stark Marked gene: FOXR1 as ready
Microcephaly v1.75 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.75 FOXR1 Zornitza Stark Classified gene: FOXR1 as Amber List (moderate evidence)
Microcephaly v1.75 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4325 FOXR1 Zornitza Stark Mode of pathogenicity for gene: FOXR1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Intellectual disability syndromic and non-syndromic v0.4324 FOXR1 Zornitza Stark Marked gene: FOXR1 as ready
Intellectual disability syndromic and non-syndromic v0.4324 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4324 FOXR1 Zornitza Stark Classified gene: FOXR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4324 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4323 Zornitza Stark removed gene:FOXR2 from the panel
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Deafness_IsolatedAndComplex v1.103 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed publications: 34800363
Deafness_IsolatedAndComplex v1.103 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Leukodystrophy - adult onset v0.94 LAMB1 Alison Yeung Marked gene: LAMB1 as ready
Leukodystrophy - adult onset v0.94 LAMB1 Alison Yeung Gene: lamb1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.94 LAMB1 Alison Yeung Classified gene: LAMB1 as Green List (high evidence)
Leukodystrophy - adult onset v0.94 LAMB1 Alison Yeung Gene: lamb1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.93 LAMB1 Alison Yeung Added comment: Comment on mode of inheritance: Monoallelic mode of inheritance for adult-onset disease
Leukodystrophy - adult onset v0.93 LAMB1 Alison Yeung Mode of inheritance for gene: LAMB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy - adult onset v0.93 LAMB1 Alison Yeung Added comment: Comment on mode of inheritance: Monoallelic mode of inheritance for adult-onset disease
Leukodystrophy - adult onset v0.93 LAMB1 Alison Yeung Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty Deleted their comment
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty edited their review of gene: OGDHL: Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.; Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty commented on gene: OGDHL: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty Deleted their comment
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty changed review comment from: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature; to: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4322 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to PMID: 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Mitochondrial disease v0.678 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.677 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.676 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to 23599390
Mitochondrial disease v0.675 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1397 OGDHL Zornitza Stark Marked gene: OGDHL as ready
Genetic Epilepsy v0.1397 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1397 OGDHL Zornitza Stark Classified gene: OGDHL as Green List (high evidence)
Genetic Epilepsy v0.1397 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10027 OGDHL Alison Yeung Marked gene: OGDHL as ready
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10027 OGDHL Alison Yeung Classified gene: OGDHL as Green List (high evidence)
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1396 OGDHL Zornitza Stark gene: OGDHL was added
gene: OGDHL was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Four individuals had seizures.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio reviewed gene: FOXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other; Current diagnostic: yes
Mitochondrial disease v0.674 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio Deleted their review
Microcephaly v1.74 FOXR1 Paul De Fazio gene: FOXR1 was added
gene: FOXR1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10026 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio edited their review of gene: FOXR2: Changed publications: -; Changed phenotypes: -
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio edited their review of gene: FOXR2: Changed rating: RED; Changed mode of inheritance: Other
Mitochondrial disease v0.674 SLIRP Zornitza Stark Marked gene: SLIRP as ready
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio changed review comment from: Geme added incorrectly.; to: Gene added incorrectly.
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature; to: Geme added incorrectly.
Mitochondrial disease v0.674 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mendeliome v0.10026 SLIRP Zornitza Stark Marked gene: SLIRP as ready
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4322 FOXR1 Paul De Fazio gene: FOXR1 was added
gene: FOXR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Mode of pathogenicity for gene: FOXR1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10026 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mitochondrial disease v0.673 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Sources: Literature
Mendeliome v0.10025 FOXR1 Zornitza Stark Marked gene: FOXR1 as ready
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10025 FOXR1 Zornitza Stark Classified gene: FOXR1 as Amber List (moderate evidence)
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10024 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to PMID: 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Cardiomyopathy_Paediatric v0.112 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital Heart Defect v0.152 TAB2 Chern Lim edited their review of gene: TAB2: Changed phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Rasopathy v0.92 TAB2 Chern Lim gene: TAB2 was added
gene: TAB2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to PMID: 34456334
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID: 34456334
- Identified 11 patients with a deletion containing TAB2 (size 1.68–14.31 Mb) and 14 patients
from six families with novel truncating TAB2 variants.
- Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome.
- Gene was previously associated with congenital heart defects and cardiomyopathy.
Sources: Literature
Mendeliome v0.10024 TAB2 Zornitza Stark Tag SV/CNV tag was added to gene: TAB2.
Mendeliome v0.10024 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Mendeliome v0.10024 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Mendeliome v0.10024 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Mendeliome v0.10023 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Mendeliome v0.10022 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung Marked gene: HIBADH as ready
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung Gene: hibadh has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung gene: HIBADH was added
gene: HIBADH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4322 FOXR2 Paul De Fazio gene: FOXR2 was added
gene: FOXR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOXR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR2 were set to 34723967
Phenotypes for gene: FOXR2 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR2 was set to AMBER
gene: FOXR2 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10021 FAAH2 Zornitza Stark Marked gene: FAAH2 as ready
Mendeliome v0.10021 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Mendeliome v0.10021 FAAH2 Zornitza Stark Publications for gene: FAAH2 were set to PMID: 34645488
Mendeliome v0.10020 FAAH2 Zornitza Stark Classified gene: FAAH2 as Red List (low evidence)
Mendeliome v0.10020 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.152 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disease v0.673 OGDH Zornitza Stark Marked gene: OGDH as ready
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.673 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.672 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mendeliome v0.10019 FOXR1 Paul De Fazio changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature; to: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10019 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Review for gene: SLIRP was set to RED
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Mendeliome v0.10019 OGDH Zornitza Stark Marked gene: OGDH as ready
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10019 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10018 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley edited their review of gene: FAAH2: Changed publications: 34645488, 25885783
Leukodystrophy - adult onset v0.92 LAMB1 Lucy Spencer reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34606115; Phenotypes: leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10017 FOXR1 Paul De Fazio gene: FOXR1 was added
gene: FOXR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10017 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10017 FAAH2 Ain Roesley changed review comment from: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature; to: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomAD
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley gene: FAAH2 was added
gene: FAAH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FAAH2 were set to PMID: 34645488
Penetrance for gene: FAAH2 were set to unknown
Review for gene: FAAH2 was set to RED
gene: FAAH2 was marked as current diagnostic
Added comment: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature
Mendeliome v0.10017 NT5E Zornitza Stark Marked gene: NT5E as ready
Mendeliome v0.10017 NT5E Zornitza Stark Gene: nt5e has been classified as Green List (High Evidence).
Mendeliome v0.10017 NT5E Zornitza Stark Phenotypes for gene: NT5E were changed from to Calcification of joints and arteries, MIM# 211800
Mendeliome v0.10016 NT5E Zornitza Stark Publications for gene: NT5E were set to
Mendeliome v0.10015 NT5E Zornitza Stark Mode of inheritance for gene: NT5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10014 NT5E Zornitza Stark reviewed gene: NT5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21288095; Phenotypes: Calcification of joints and arteries, MIM# 211800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.74 ARPC4 Bryony Thompson Classified gene: ARPC4 as Green List (high evidence)
Microcephaly v1.74 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Microcephaly v1.73 ARPC4 Bryony Thompson gene: ARPC4 was added
gene: ARPC4 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Phenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Mendeliome v0.10014 ARPC4 Bryony Thompson Marked gene: ARPC4 as ready
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10014 ARPC4 Bryony Thompson Classified gene: ARPC4 as Green List (high evidence)
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10013 ARPC4 Bryony Thompson gene: ARPC4 was added
gene: ARPC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Phenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Fetal anomalies v0.903 ZFPM2 Zornitza Stark Phenotypes for gene: ZFPM2 were changed from 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500 to Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500
Fetal anomalies v0.902 ZFPM2 Zornitza Stark reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 3 - MIM#610187, Tetralogy of Fallot - MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Classified gene: ZFPM2 as Green List (high evidence)
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.901 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Fetal anomalies v0.901 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.901 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Fetal anomalies v0.901 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.900 TRIM71 Zornitza Stark Marked gene: TRIM71 as ready
Fetal anomalies v0.900 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Fetal anomalies v0.900 TRIM71 Zornitza Stark Classified gene: TRIM71 as Green List (high evidence)
Fetal anomalies v0.900 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Mendeliome v0.10011 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Mendeliome v0.10010 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Classified gene: TNFRSF11A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Classified gene: TNFRSF11A as Green List (high evidence)
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4322 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Intellectual disability syndromic and non-syndromic v0.4322 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4322 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from to Tenorio syndrome - MIM# 616260
Intellectual disability syndromic and non-syndromic v0.4321 RNF125 Zornitza Stark Publications for gene: RNF125 were set to
Intellectual disability syndromic and non-syndromic v0.4320 RNF125 Zornitza Stark Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4319 RNF125 Zornitza Stark reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10009 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Mendeliome v0.10009 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Mendeliome v0.10009 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from to Tenorio syndrome - MIM# 616260
Mendeliome v0.10008 RNF125 Zornitza Stark Publications for gene: RNF125 were set to
Mendeliome v0.10007 RNF125 Zornitza Stark Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10006 RNF125 Zornitza Stark reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.898 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Fetal anomalies v0.898 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Fetal anomalies v0.898 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from Tenorio syndromem - MIM# 616260 to Tenorio syndrome - MIM# 616260
Fetal anomalies v0.897 RNF125 Zornitza Stark Classified gene: RNF125 as Green List (high evidence)
Fetal anomalies v0.897 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Fetal anomalies v0.896 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Fetal anomalies v0.896 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Fetal anomalies v0.896 MPDZ Zornitza Stark Classified gene: MPDZ as Green List (high evidence)
Fetal anomalies v0.896 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Fetal anomalies v0.895 MPDZ Zornitza Stark Tag founder tag was added to gene: MPDZ.
Fetal anomalies v0.895 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Fetal anomalies v0.895 KIF4A Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence).
Fetal anomalies v0.895 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus to Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus
Fetal anomalies v0.894 KIF4A Zornitza Stark Classified gene: KIF4A as Green List (high evidence)
Fetal anomalies v0.894 KIF4A Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence).
Mendeliome v0.10006 ERMAP Zornitza Stark Marked gene: ERMAP as ready
Mendeliome v0.10006 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Mendeliome v0.10006 ERMAP Zornitza Stark Phenotypes for gene: ERMAP were changed from to Blood types
Mendeliome v0.10005 ERMAP Zornitza Stark Classified gene: ERMAP as Red List (low evidence)
Mendeliome v0.10005 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Fetal anomalies v0.893 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.893 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Defects of intrinsic and innate immunity v0.84 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Defects of intrinsic and innate immunity v0.83 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.82 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.82 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.81 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16973841, 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10004 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Mendeliome v0.10004 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Susceptibility to Viral Infections v0.80 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Susceptibility to Viral Infections v0.79 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.78 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.78 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.77 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16973841, 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10004 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Mendeliome v0.10003 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Mendeliome v0.10002 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10001 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Mendeliome v0.10001 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10000 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10000 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Red List (low evidence)
Mendeliome v0.10000 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Fetal anomalies v0.891 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.891 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.890 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Fetal anomalies v0.890 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.890 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Fetal anomalies v0.890 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.889 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Fetal anomalies v0.889 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.889 ATP11A Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence)
Fetal anomalies v0.889 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Mendeliome v0.9999 PLS3 Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Phenotypes for gene: PLS3 were changed from to Bone mineral density QTL18, osteoporosis - MIM#300910
Mendeliome v0.9998 PLS3 Zornitza Stark Publications for gene: PLS3 were set to
Additional findings_Paediatric v0.265 Zornitza Stark removed gene:WNT10A from the panel
Mendeliome v0.9997 PLS3 Zornitza Stark Mode of inheritance for gene: PLS3 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 v0.9996 PLS3 Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043; Phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.888 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Fetal anomalies v0.888 PLS3 Zornitza Stark Gene: pls3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.888 PLS3 Zornitza Stark Classified gene: PLS3 as Amber List (moderate evidence)
Fetal anomalies v0.888 PLS3 Zornitza Stark Gene: pls3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9996 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Mendeliome v0.9996 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Mendeliome v0.9996 MMP9 Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2, MIM# 613073
Mendeliome v0.9995 MMP9 Zornitza Stark Publications for gene: MMP9 were set to
Mendeliome v0.9994 MMP9 Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9993 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464; Phenotypes: Metaphyseal anadysplasia 2, MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.887 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Fetal anomalies v0.887 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.887 MMP9 Zornitza Stark Classified gene: MMP9 as Amber List (moderate evidence)
Fetal anomalies v0.887 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.886 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 2 - MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.886 ZFPM2 Krithika Murali gene: ZFPM2 was added
gene: ZFPM2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427; 10892744; 21919901; 14517948
Phenotypes for gene: ZFPM2 were set to 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500
Review for gene: ZFPM2 was set to GREEN
Added comment: Associated with congenital diaphragmatic hernia, congenital heart disease and sex reversal.
Sources: Expert list, Literature
Fetal anomalies v0.886 SLIT3 Krithika Murali gene: SLIT3 was added
gene: SLIT3 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Expert list, Literature
Fetal anomalies v0.886 TRIM71 Krithika Murali gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 - #618667
Review for gene: TRIM71 was set to GREEN
Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.

PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder

PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.57 TNFRSF11A Krithika Murali gene: TNFRSF11A was added
gene: TNFRSF11A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Review for gene: TNFRSF11A was set to GREEN
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.

Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203)
Sources: Literature
Fetal anomalies v0.886 TNFRSF11A Krithika Murali reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.886 TNFRSF11A Krithika Murali Deleted their review
Fetal anomalies v0.886 TNFRSF11A Krithika Murali gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Review for gene: TNFRSF11A was set to AMBER
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.

Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203)
Sources: Literature
Fetal anomalies v0.886 RNF125 Krithika Murali gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndromem - MIM# 616260
Review for gene: RNF125 was set to GREEN
Added comment: 1 de novo deletion and 3 missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability and mild hydrocephaly.
Sources: Literature
Fetal anomalies v0.886 MPDZ Krithika Murali gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 28556411; 23240096; 30518636; 29499638
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219
Review for gene: MPDZ was set to GREEN
Added comment: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants.
Sources: Expert list, Literature
Fetal anomalies v0.886 KIF4A Krithika Murali gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 24812067; 34346154; 30679815
Phenotypes for gene: KIF4A were set to ?Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus
Review for gene: KIF4A was set to GREEN
Added comment: KIF4A variants associated with a phenotypic spectrum from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end.
Sources: Expert list, Literature
Mendeliome v0.9993 ERMAP Lucy Spencer reviewed gene: ERMAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood types; Mode of inheritance: None
Fetal anomalies v0.886 ISLR2 Krithika Murali gene: ISLR2 was added
gene: ISLR2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to Hydrocephalus; arthrogryposis
Review for gene: ISLR2 was set to AMBER
Added comment: Homozygous truncating variant in a single consanguineous family segregated with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. Mouse model also had hydrocephalus.
Sources: Expert list, Literature
Mendeliome v0.9993 UNC93B1 Lucy Spencer reviewed gene: UNC93B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16973841; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.886 FOXJ1 Krithika Murali gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43 - MIM# 618699
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene associated with a motile ciliopathy characterized by hydrocephalus, chronic destructive airway disease, and
randomization of left/right body asymmetry
Sources: Expert list, Literature
Fetal anomalies v0.886 EEF2 Krithika Murali gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature, Expert list
Fetal anomalies v0.886 DLL1 Krithika Murali gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709
Review for gene: DLL1 was set to GREEN
Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed non-specific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list, Literature
Fetal anomalies v0.886 ATP11A Krithika Murali gene: ATP11A was added
gene: ATP11A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP11A were set to 34403372
Phenotypes for gene: ATP11A were set to Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum
Review for gene: ATP11A was set to AMBER
Added comment: PMID: 34403372
- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. Epilepsy diagnosed at 2 weeks of age followed by global developmental delay, mild hypothyroidism and cataracts.
- Repeated MRI (earliest published is from age 2 yo) showed non-progressive severe cerebral atrophy, enlarged subarachnoid space, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum.
- Axonal neuropathy suggested.
- K/I heterozygous mice died perinatally.
- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.

gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets.
Sources: Literature
Fetal anomalies v0.886 PLS3 Krithika Murali gene: PLS3 was added
gene: PLS3 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PLS3 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: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910
Review for gene: PLS3 was set to AMBER
Added comment: First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta.

No published reports of antenatal diagnosis.
Sources: Expert list, Literature
Fetal anomalies v0.886 MMP9 Krithika Murali gene: MMP9 was added
gene: MMP9 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 19615667; 28342220; 34407464
Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 - MIM# 613073
Review for gene: MMP9 was set to GREEN
Added comment: Biallelic variants in MMP9 associated with autosomal recessive, metaphyseal anadysplasia type 2. Usually associated with a milder phenotype characterised by normal birth length, transitory bowing of the legs, spontaneous regression and disappearance of metaphyseal alterations during adolescence. Phenotype of MAD type 2 cases secondary to biallelic MMP13 gene mutations (more reported cases associated with this gene) similar to MMP9 associated cases.

MMP9-associated MAD type 2 cases reported so far:

x2 sibs from 1 consanguineous Pakistani family diagnosed postnatally with normal stature, genu varum, metaphyseal fraying during infancy (PMID 19615667)

x1 child from consanguineous family with homozygous nonsense variants diagnosed age 19 months with improvement of skeletal manifestations over a short period and by an early age (PMID 34407464)

x2 siblings from x1 non-consanguineous Jewish Caucasian family reported with more severe phenotype than other previously reported cases for MAD type 2 (PMID 28342220). Both siblings diagnosed during 2nd trimester with shortening of long bones. x1 fetus terminated at 19 weeks gestation - dysmorphic face including micrognathia, flattened nose, hypertelorism, short neck and hypoplastic lungs. 2nd liveborn female - reduced body length at birth (-4 SD), facial dysmorphism, cleft palate, anteriorly placed anus and other anomalies. No radiographic metaphyseal anomalies. Both children identified as having the same homozygous MMP9 missense variants. Authors acknowledge the phenotype is more severe than other previously reported cases of MAD type 2 associated with MMP9 or MMP13 gene variants. Some dispute regarding this prenatal case as detailed by PMID 34407464 such as possibility of an alternative skeletal dysplasia diagnosis (Desbuquois dypslasia type 2) and presence of 5 homozygotes in gnomad with the same missense variants - ?founder mutation.

Borderline amber-green gene in the prenatal setting based on current evidence.
Sources: Expert list, Literature
Mendeliome v0.9993 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Mendeliome v0.9993 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Mendeliome v0.9993 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Mendeliome v0.9992 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Mendeliome v0.9991 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9990 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.886 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Fetal anomalies v0.886 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Fetal anomalies v0.886 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Fetal anomalies v0.885 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Fetal anomalies v0.884 CLCNKB Zornitza Stark Classified gene: CLCNKB as Green List (high evidence)
Fetal anomalies v0.884 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Fetal anomalies v0.883 CLCNKB Zornitza Stark changed review comment from: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance. ID described in digenic inheritance.; to: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance.

Can present antenatally with polyhydramnios
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Marked gene: GCK as ready
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Phenotypes for gene: GCK were changed from MODY, type II, 125851; Maturity-onset diabetes of the young (MODY); Transient Neonatal Diabetes, Recessive; Maturity Onset Diabetes of the Young; Maturity Onset Diabetes of the Young (Dominant); Permanent Neonatal Diabetes Mellitus (recessive) to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Maturity-onset Diabetes of the Young v0.11 GCK Zornitza Stark Publications for gene: GCK were set to
Maturity-onset Diabetes of the Young v0.10 GCK Michelle Torres reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.883 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Fetal anomalies v0.883 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Fetal anomalies v0.883 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia 611884 to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Fetal anomalies v0.882 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Marked gene: DNAAF4 as ready
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Gene: dnaaf4 has been classified as Green List (High Evidence).
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Phenotypes for gene: DNAAF4 were changed from PRIMARY CILIARY DYSPLASIA to Ciliary dyskinesia, primary, 25, MIM# 615482
Fetal anomalies v0.880 DNAAF4 Zornitza Stark Publications for gene: DNAAF4 were set to
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 to Ciliary dyskinesia, primary, 2, MIM# 606763
Fetal anomalies v0.878 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia 613193 to Ciliary dyskinesia, primary, 13, MIM# 613193
Fetal anomalies v0.876 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Fetal anomalies v0.875 DMPK Zornitza Stark Marked gene: DMPK as ready
Fetal anomalies v0.875 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Fetal anomalies v0.875 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 to Myotonic dystrophy 1, MIM#160900
Fetal anomalies v0.874 DMPK Zornitza Stark Mode of pathogenicity for gene: DMPK was changed from to Other
Fetal anomalies v0.873 DMPK Zornitza Stark Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.872 DMPK Zornitza Stark changed review comment from: Intellectual disability is a feature of the congenital form of this triplet expansion disorder.; to: Triplet expansion disorder, severe perinatal form.
Fetal anomalies v0.872 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Spondylocostal Dysostosis v0.8 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Spondylocostal Dysostosis v0.8 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Spondylocostal Dysostosis v0.8 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Spondylocostal Dysostosis v0.7 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Spondylocostal Dysostosis v0.6 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Spondylocostal Dysostosis v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.9990 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Mendeliome v0.9990 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Mendeliome v0.9990 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Mendeliome v0.9989 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Mendeliome v0.9988 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9987 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.872 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Fetal anomalies v0.872 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Fetal anomalies v0.872 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Fetal anomalies v0.871 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 12746394
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 10742114
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

More than 10 unrelated families reported, well established gene-disease association.
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed rating: GREEN
Fetal anomalies v0.870 DHFR Zornitza Stark Marked gene: DHFR as ready
Fetal anomalies v0.870 DHFR Zornitza Stark Gene: dhfr has been classified as Red List (Low Evidence).
Fetal anomalies v0.870 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Fetal anomalies v0.869 DHFR Zornitza Stark Publications for gene: DHFR were set to
Fetal anomalies v0.868 DHFR Zornitza Stark Classified gene: DHFR as Red List (low evidence)
Fetal anomalies v0.868 DHFR Zornitza Stark Gene: dhfr has been classified as Red List (Low Evidence).
Fetal anomalies v0.867 DHFR Zornitza Stark edited their review of gene: DHFR: Changed rating: RED
Fetal anomalies v0.867 DHFR Zornitza Stark changed review comment from: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation.; to: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation. Earliest presentation was post-natal with acquired microcephaly.
Fetal anomalies v0.867 DHFR Zornitza Stark edited their review of gene: DHFR: Changed rating: AMBER
Fetal anomalies v0.867 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Fetal anomalies v0.867 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Fetal anomalies v0.867 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from SMITH-LEMLI-OPITZ SYNDROME to Smith-Lemli-Opitz syndrome, MIM# 270400
Fetal anomalies v0.866 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 31840946
Fetal anomalies v0.865 DHCR7 Zornitza Stark changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list; to: Well established gene-disease association, multiple congenital anomalies.

Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v1.21 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Zornitza Stark edited their review of gene: TUBB3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.152 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Congenital Heart Defect v0.152 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Fetal anomalies v0.865 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Fetal anomalies v0.865 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Fetal anomalies v0.865 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Fetal anomalies v0.865 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.152 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Congenital Heart Defect v0.152 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Fetal anomalies v0.864 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 30157302; 23665959
Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Review for gene: SMAD2 was set to GREEN
Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Sources: Expert Review
Congenital Heart Defect v0.151 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 30157302; 23665959
Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Review for gene: SMAD2 was set to GREEN
Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Sources: Expert Review
Mendeliome v0.9987 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133; 29967133; 30157302; 23665959
Mendeliome v0.9986 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Mendeliome v0.9985 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark Marked gene: CARD10 as ready
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark Gene: card10 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Expert list
Mendeliome v0.9984 CARD10 Zornitza Stark Marked gene: CARD10 as ready
Mendeliome v0.9984 CARD10 Zornitza Stark Gene: card10 has been classified as Red List (Low Evidence).
Mendeliome v0.9984 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Expert list
Mendeliome v0.9983 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Mendeliome v0.9983 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9983 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from to Immunodeficiency 88, MIM# 619630; Asthma and nasal polyps, MIM# 208550
Mendeliome v0.9982 TBX21 Zornitza Stark Publications for gene: TBX21 were set to
Mendeliome v0.9981 TBX21 Zornitza Stark Mode of inheritance for gene: TBX21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9980 TBX21 Zornitza Stark Classified gene: TBX21 as Red List (low evidence)
Mendeliome v0.9980 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9979 TBX21 Zornitza Stark reviewed gene: TBX21: Rating: RED; Mode of pathogenicity: None; Publications: 33296702, 9393345, 15496426, 15806396; Phenotypes: Immunodeficiency 88, MIM# 619630, Asthma and nasal polyps, MIM# 208550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Chern Lim edited their review of gene: TUBB3: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Cerebellar and Pontocerebellar Hypoplasia v1.20 TUBB3 Chern Lim reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9979 SMAD2 Melanie Marty changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.; to: 10 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Mendeliome v0.9979 SMAD2 Melanie Marty Deleted their comment
Mendeliome v0.9979 SMAD2 Melanie Marty commented on gene: SMAD2: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Mendeliome v0.9979 SMAD2 Melanie Marty edited their review of gene: SMAD2: Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype; Changed publications: 29967133, 30157302, 23665959; Changed phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease, congenital heart disease
Hydrocephalus_Ventriculomegaly v0.106 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Hydrocephalus_Ventriculomegaly v0.106 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.106 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Hydrocephalus_Ventriculomegaly v0.105 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Hydrocephalus_Ventriculomegaly v0.104 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.103 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9979 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Mendeliome v0.9979 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Mendeliome v0.9979 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols
Fetal anomalies v0.863 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Fetal anomalies v0.863 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Mendeliome v0.9978 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Mendeliome v0.9977 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9976 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.863 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from DESMOSTEROLOSIS to Desmosterolosis, MIM# 602398
Fetal anomalies v0.862 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Fetal anomalies v0.861 DHCR24 Zornitza Stark changed review comment from: At least 4 families reported where contractures are a feature of the condition.
Sources: Expert list; to: At least 4 families reported where contractures are a feature of the condition. Other congenital anomalies reported as well.

Sources: Expert list
Fetal anomalies v0.861 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Fetal anomalies v0.861 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Fetal anomalies v0.861 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from WARSAW BREAKAGE SYNDROME to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Fetal anomalies v0.860 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Mendeliome v0.9976 EMD Zornitza Stark Marked gene: EMD as ready
Mendeliome v0.9976 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Mendeliome v0.9976 EMD Zornitza Stark Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Mendeliome v0.9975 EMD Zornitza Stark Publications for gene: EMD were set to
Mendeliome v0.9974 EMD Zornitza Stark Mode of inheritance for gene: EMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.859 EMD Zornitza Stark Marked gene: EMD as ready
Fetal anomalies v0.859 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Fetal anomalies v0.859 EMD Zornitza Stark Publications for gene: EMD were set to 26247046
Fetal anomalies v0.858 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
Fetal anomalies v0.858 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Fetal anomalies v0.857 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.857 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Fetal anomalies v0.857 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.857 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from Mosaic Variegated Aneuploidy and Wilms Tumour to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Fetal anomalies v0.856 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Growth failure v1.21 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Growth failure v1.21 TRIP13 Zornitza Stark Classified gene: TRIP13 as Green List (high evidence)
Growth failure v1.21 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Growth failure v1.20 TRIP13 Zornitza Stark changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.
Sources: Expert Review; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.

Supportive functional data.
Sources: Expert Review
Growth failure v1.20 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Microcephaly v1.72 TRIP13 Zornitza Stark Classified gene: TRIP13 as Green List (high evidence)
Microcephaly v1.72 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Microcephaly v1.71 TRIP13 Zornitza Stark changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Microcephaly present in 3/6.; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Microcephaly present in 3/6.

Supportive functional data.
Microcephaly v1.71 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Mitochondrial disease v0.671 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from Spastic ataxia 4, autosomal recessive 613672 to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mendeliome v0.9973 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mitochondrial disease v0.670 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mendeliome v0.9973 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Mendeliome v0.9973 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Mendeliome v0.9973 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mendeliome v0.9972 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Mendeliome v0.9971 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672, Lethal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.114 TRIP13 Zornitza Stark Classified gene: TRIP13 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.114 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.113 TRIP13 Zornitza Stark changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect. Functional data.
Cancer Predisposition_Paediatric v0.113 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Mitochondrial disease v0.670 MTPAP Zornitza Stark changed review comment from: At least two families reported, functional data.; to: Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.

These are likely to represent a continuum of severity associated with a mitochondrial disorder.
Mendeliome v0.9970 EMD Belinda Chong reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.855 EMD Belinda Chong reviewed gene: EMD: Rating: ; Mode of pathogenicity: None; Publications: 21697856, 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4319 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Intellectual disability syndromic and non-syndromic v0.4319 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4319 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Intellectual disability syndromic and non-syndromic v0.4318 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Intellectual disability syndromic and non-syndromic v0.4317 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4316 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Mitochondrial disease v0.669 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.667 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mendeliome v0.9970 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mendeliome v0.9970 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23 MIM#616198
Mendeliome v0.9969 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mendeliome v0.9968 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY to Combined oxidative phosphorylation deficiency 23 MIM#616198
Fetal anomalies v0.854 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Fetal anomalies v0.853 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.94 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.93 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.92 GRIP1 Zornitza Stark reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700879, 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Mendeliome v0.9967 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Mendeliome v0.9967 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT
Mendeliome v0.9966 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to
Mendeliome v0.9965 GRIP1 Zornitza Stark changed review comment from: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.; to: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.

'Mild' bi-allelic variants also postulated to cause isolated CAKUT, PMID 24700879.
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed phenotypes: Fraser syndrome 3 MIM#617667, CAKUT
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed publications: 24700879, 24357607, 22510445
Mendeliome v0.9965 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9964 GRIP1 Zornitza Stark reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.853 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Fetal anomalies v0.853 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.853 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from Fraser syndrome 219000 to Fraser syndrome 3 MIM#617667
Fetal anomalies v0.852 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to 22510445
Clefting disorders v0.154 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Clefting disorders v0.154 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Clefting disorders v0.154 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from Cleft lip; VAN DER WOUDE SYNDROME 2 to Van der Woude syndrome 2 MIM#606713
Clefting disorders v0.153 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Clefting disorders v0.152 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.151 GRHL3 Zornitza Stark reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9964 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Mendeliome v0.9964 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Mendeliome v0.9964 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from to Van der Woude syndrome 2 MIM#606713
Mendeliome v0.9963 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Mendeliome v0.9962 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.851 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Fetal anomalies v0.851 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.851 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from VAN DER WOUDE SYNDROME to Van der Woude syndrome 2 MIM#606713
Fetal anomalies v0.850 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Fetal anomalies v0.849 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.848 GNS Zornitza Stark Marked gene: GNS as ready
Fetal anomalies v0.848 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Fetal anomalies v0.848 GNS Zornitza Stark Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Fetal anomalies v0.847 GNS Zornitza Stark Publications for gene: GNS were set to
Mendeliome v0.9961 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Mendeliome v0.9961 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Mendeliome v0.9961 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Mendeliome v0.9960 GNPTAB Zornitza Stark Publications for gene: GNPTAB were set to
Mendeliome v0.9959 GNPTAB Zornitza Stark Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9958 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.846 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Fetal anomalies v0.846 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Fetal anomalies v0.846 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II to Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600
Fetal anomalies v0.845 GNPTAB Zornitza Stark Publications for gene: GNPTAB were set to
Pain syndromes v0.32 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Pain syndromes v0.32 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Pain syndromes v0.32 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Episodic pain syndrome, familial, 3, MIM# 615552
Pain syndromes v0.31 SCN11A Zornitza Stark Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915
Pain syndromes v0.30 SCN11A Zornitza Stark Mode of pathogenicity for gene: SCN11A was changed from to Other
Pain syndromes v0.29 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, MIM# 615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.29 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.4 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Red cell disorders v1.4 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Red cell disorders v1.4 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Green List (high evidence)
Red cell disorders v1.4 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Red cell disorders v1.3 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Red cell disorders. Sources: Expert Review
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AMMECR1 were set to 27811305; 28089922; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. However, onset is in early childhood.
Sources: Expert Review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.246 FANCA Bryony Thompson gene: FANCA was added
gene: FANCA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: FANCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FANCA were set to 34794894; 33025164; 31535215; 10915769
Phenotypes for gene: FANCA were set to Primary ovarian insufficiency
Review for gene: FANCA was set to AMBER
Added comment: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Sources: Literature
Pain syndromes v0.28 SCN11A Teresa Zhao reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25791876, PMID: 30554136; Phenotypes: Familial episodic pain syndrome 3 (MIM#615552), Hereditary sensory and autonomic neuropathy, type VII (MIM#615548); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.103 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.102 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AMMECR1 were set to 27811305; 28089922; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. Onset is in early childhood.
Sources: Expert list
Mendeliome v0.9958 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Mendeliome v0.9958 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Mendeliome v0.9958 AMMECR1 Zornitza Stark Phenotypes for gene: AMMECR1 were changed from to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Mendeliome v0.9957 AMMECR1 Zornitza Stark Publications for gene: AMMECR1 were set to
Mendeliome v0.9956 AMMECR1 Zornitza Stark Mode of inheritance for gene: AMMECR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9955 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Publications for gene: AMMECR1 were set to
Fetal anomalies v0.843 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Red List (low evidence)
Fetal anomalies v0.843 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.842 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: RED; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Marked gene: AMBRA1 as ready
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Gene: ambra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Classified gene: AMBRA1 as Green List (high evidence)
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Gene: ambra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.841 AMBRA1 Zornitza Stark reviewed gene: AMBRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17589504, 32333458; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9955 AMACR Zornitza Stark Marked gene: AMACR as ready
Mendeliome v0.9955 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mendeliome v0.9955 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Mendeliome v0.9954 AMACR Zornitza Stark Publications for gene: AMACR were set to
Mendeliome v0.9953 AMACR Zornitza Stark Mode of inheritance for gene: AMACR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9952 AMACR Zornitza Stark reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068, 34267495, 33047465; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950, Alpha-methylacyl-CoA racemase deficiency, MIM# 614307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.841 AMACR Zornitza Stark Marked gene: AMACR as ready
Fetal anomalies v0.841 AMACR Zornitza Stark Gene: amacr has been classified as Red List (Low Evidence).
Fetal anomalies v0.841 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency, 614307 to Bile acid synthesis defect, congenital, 4, MIM# 214950
Fetal anomalies v0.840 AMACR Zornitza Stark Publications for gene: AMACR were set to
Fetal anomalies v0.839 AMACR Zornitza Stark Classified gene: AMACR as Red List (low evidence)
Fetal anomalies v0.839 AMACR Zornitza Stark Gene: amacr has been classified as Red List (Low Evidence).
Fetal anomalies v0.838 AMACR Zornitza Stark reviewed gene: AMACR: Rating: RED; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Fetal anomalies v0.837 ALOXE3 Zornitza Stark Publications for gene: ALOXE3 were set to
Fetal anomalies v0.836 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9952 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.836 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM# 606545; Mode of inheritance: None
Fetal anomalies v0.836 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Fetal anomalies v0.836 ALOX12B Zornitza Stark Gene: alox12b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.836 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive 2, 242100 to Ichthyosis, congenital, autosomal recessive 2, MIM#242100
Fetal anomalies v0.835 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Fetal anomalies v0.834 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: None
Ichthyosis v1.1 ALOX12B Zornitza Stark edited their review of gene: ALOX12B: Changed publications: 16116617, 11773004
Fetal anomalies v0.834 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Fetal anomalies v0.834 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.834 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Fetal anomalies v0.833 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Fetal anomalies v0.833 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.832 ALG9 Zornitza Stark edited their review of gene: ALG9: Changed publications: 28932688, 25966638, 26453364
Fetal anomalies v0.832 ALG9 Zornitza Stark edited their review of gene: ALG9: Changed phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Fetal anomalies v0.832 ALG9 Zornitza Stark changed review comment from: 11 patients from 7 families reported. DD/ID is part of the phenotype.; to: Bi-allelic variants and CDG: At least 7 unrelated families reported, 11 individuals. Clinical features include failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; three patients died in utero from a lethal skeletal dysplasia. The severe end of the spectrum is referred to as Gillessen-Kaesbach-Nishimura syndrome and is characterised by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life.
Fetal anomalies v0.832 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Fetal anomalies v0.832 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.832 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from ALG2-CDG to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Fetal anomalies v0.831 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Fetal anomalies v0.830 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Fetal anomalies v0.830 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.829 ALG2 Zornitza Stark edited their review of gene: ALG2: Added comment: Association with myasthenia: Two families reported, same, likely founder variant. Onset of symptoms was in infancy rather than congenital.

Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; Changed publications: 23404334, 24461433, 12684507
Fetal anomalies v0.829 ALG13 Zornitza Stark Marked gene: ALG13 as ready
Fetal anomalies v0.829 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.829 ALG13 Zornitza Stark Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES. to Congenital disorder of glycosylation, type Is (MIM# 300884); Developmental and epileptic encephalopathy.
Fetal anomalies v0.828 ALG13 Zornitza Stark Publications for gene: ALG13 were set to
Fetal anomalies v0.827 ALG13 Zornitza Stark changed review comment from: More than 10 families reported.; to: More than 10 families reported. Typical presentation is with refractory seizures at around 6 months of age and developmental delay.

Majority of affected individuals have been females. Microcephaly reported in a male patient.
Fetal anomalies v0.827 ALG13 Zornitza Stark edited their review of gene: ALG13: Changed rating: AMBER
Fetal anomalies v0.827 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Fetal anomalies v0.827 ALG11 Zornitza Stark Gene: alg11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.827 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from ALG11-CDG to Congenital disorder of glycosylation, type Ip, MIM# 613661
Fetal anomalies v0.826 ALG11 Zornitza Stark changed review comment from: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems; to: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems

Onset is in first year of life, microcephaly rarely reported.
Fetal anomalies v0.826 ALG11 Zornitza Stark edited their review of gene: ALG11: Changed rating: AMBER
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Fetal anomalies v0.825 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 33442026
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Expert Review
Congenital Heart Defect v0.150 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Congenital Heart Defect v0.150 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.150 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Congenital Heart Defect v0.150 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.149 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 33442026
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Expert Review
Mendeliome v0.9952 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Mendeliome v0.9951 NADSYN1 Zornitza Stark edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.92 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Congenital Heart Defect v0.148 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.91 NADSYN1 Zornitza Stark edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Publications for gene: NADSYN1 were set to
Fetal anomalies v0.823 GNS Ain Roesley reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9951 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: ; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.823 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9951 DMC1 Bryony Thompson Marked gene: DMC1 as ready
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9951 DMC1 Bryony Thompson Classified gene: DMC1 as Green List (high evidence)
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9950 DMC1 Bryony Thompson gene: DMC1 was added
gene: DMC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953; 18166824
Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia
Review for gene: DMC1 was set to GREEN
Added comment: PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family. Further homozygous knockout mice study demonstrated total failure of follicle development and spermatogenesis in male mice.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson edited their review of gene: DMC1: Changed publications: 34794894, 29331980, 9660954, 9660953, 18166824
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Marked gene: DMC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Gene: dmc1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Classified gene: DMC1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Gene: dmc1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.244 DMC1 Bryony Thompson gene: DMC1 was added
gene: DMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953
Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia
Review for gene: DMC1 was set to AMBER
Added comment: 1 case with POI and 1 family with diminished ovarian reserve rather than POI, and a supporting mouse model
PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile.
Sources: Literature
Fetal anomalies v0.823 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 C14orf39 Bryony Thompson Classified gene: C14orf39 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 C14orf39 Bryony Thompson Gene: c14orf39 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 C14orf39 Bryony Thompson reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: 34718620, 33508233, 27796301; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9949 CPEB1 Bryony Thompson Marked gene: CPEB1 as ready
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9949 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9948 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Marked gene: CPEB1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.241 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.147 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Congenital Heart Defect v0.147 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.147 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Congenital Heart Defect v0.147 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.146 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644
Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral
Review for gene: NADSYN1 was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Expert Review
Mendeliome v0.9947 CD44 Zornitza Stark Marked gene: CD44 as ready
Mendeliome v0.9947 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9947 CD44 Zornitza Stark Phenotypes for gene: CD44 were changed from to [Blood group, Indian system] 609027
Mendeliome v0.9946 CD44 Zornitza Stark Classified gene: CD44 as Red List (low evidence)
Mendeliome v0.9946 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9945 CD44 Zornitza Stark reviewed gene: CD44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Indian system] 609027; Mode of inheritance: None
Polydactyly v0.243 MAPKAPK5 Zornitza Stark Publications for gene: MAPKAPK5 were set to 3344202
Polydactyly v0.242 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed publications: 33442026
Mendeliome v0.9945 MAPKAPK5 Zornitza Stark Publications for gene: MAPKAPK5 were set to 3344202
Mendeliome v0.9944 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed publications: 33442026
Mendeliome v0.9944 BCAM Zornitza Stark Marked gene: BCAM as ready
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9944 BCAM Zornitza Stark Classified gene: BCAM as Red List (low evidence)
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9943 BCAM Zornitza Stark reviewed gene: BCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9943 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Mendeliome v0.9943 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Mendeliome v0.9943 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
Mendeliome v0.9942 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Mendeliome v0.9941 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9940 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212, 20223752, 30449416; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.822 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Fetal anomalies v0.822 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Fetal anomalies v0.821 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Fetal anomalies v0.820 DDR2 Zornitza Stark changed review comment from: ID is not really a feature of either condition association with this gene.; to: Severe perinatal onset skeletal dysplasia.
Fetal anomalies v0.820 DDR2 Zornitza Stark edited their review of gene: DDR2: Changed rating: GREEN; Changed publications: 19110212, 20223752; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.820 DCX Zornitza Stark Marked gene: DCX as ready
Fetal anomalies v0.820 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Fetal anomalies v0.820 DCX Zornitza Stark Phenotypes for gene: DCX were changed from LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Fetal anomalies v0.819 DCX Zornitza Stark Publications for gene: DCX were set to
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Well established gene-disease association.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed publications: 20301364, 10915612, 9489699, 12552055; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Contractures are secondary to tone abnormalities, and are not a prominent/key feature.; to: Well established gene-disease association.
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed rating: GREEN
Skeletal dysplasia v0.140 PRKG2 Zornitza Stark Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Skeletal dysplasia v0.139 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9940 PRKG2 Zornitza Stark Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Mendeliome v0.9939 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Mendeliome v0.9939 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Mendeliome v0.9938 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Mendeliome v0.9937 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9936 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Mendeliome v0.9936 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Mendeliome v0.9936 BNC1 Bryony Thompson Marked gene: BNC1 as ready
Mendeliome v0.9936 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9936 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Diabetes mellitus, type II , MIM#125853
Mendeliome v0.9935 AKT2 Zornitza Stark Publications for gene: AKT2 were set to
Mendeliome v0.9934 AKT2 Zornitza Stark Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Marked gene: BRCA2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Classified gene: BRCA2 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence).
Mendeliome v0.9933 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24285683, 21979934, 28502730, 15166380, 19164855; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416, Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.239 BRCA2 Bryony Thompson gene: BRCA2 was added
gene: BRCA2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 34794894; 30207912; 30865812
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 MIM#605724; premature ovarian failure
Review for gene: BRCA2 was set to GREEN
Added comment: 5 cases from 4 families with biallelic variants and POI
PMID: 30207912 - 2 sisters with biallelic variants and ovarian dysgenesis as a feature of the condition. Also, supporting Drosophila model.
PMID: 30865812 - premature ovarian insufficiency present in 2 unrelated cases with biallelic variants
PMID: 32482800 - a homozygous hypomorphic BRCA2 variant in a patient with POI without cancer or FA
Sources: Literature
Fetal anomalies v0.818 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Fetal anomalies v0.818 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.818 AKT2 Zornitza Stark Mode of pathogenicity for gene: AKT2 was changed from to Other
Fetal anomalies v0.817 AKT2 Zornitza Stark Classified gene: AKT2 as Green List (high evidence)
Fetal anomalies v0.817 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.816 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21979934; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.816 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Fetal anomalies v0.816 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.816 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Fetal anomalies v0.815 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Fetal anomalies v0.814 AIMP1 Zornitza Stark Classified gene: AIMP1 as Green List (high evidence)
Fetal anomalies v0.814 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.813 AIMP1 Zornitza Stark edited their review of gene: AIMP1: Changed rating: GREEN
Fetal anomalies v0.813 AIMP1 Zornitza Stark changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.

Progressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features.
Fetal anomalies v0.813 AIMP1 Zornitza Stark edited their review of gene: AIMP1: Changed rating: AMBER
Fetal anomalies v0.813 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Fetal anomalies v0.813 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.813 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME to Combined oxidative phosphorylation deficiency 6, MIM# 300816; Cowchock syndrome, MIM# 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Fetal anomalies v0.812 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, MIM# 300816, Cowchock syndrome, MIM# 310490, Deafness, X-linked 5, MIM# 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9933 BNC1 Bryony Thompson Classified gene: BNC1 as Green List (high evidence)
Mendeliome v0.9933 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.812 AHCY Zornitza Stark Marked gene: AHCY as ready
Fetal anomalies v0.812 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.812 AHCY Zornitza Stark Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Fetal anomalies v0.811 AHCY Zornitza Stark edited their review of gene: AHCY: Changed rating: AMBER
Fetal anomalies v0.811 AHCY Zornitza Stark Deleted their comment
Fetal anomalies v0.811 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Fetal anomalies v0.811 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Fetal anomalies v0.811 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, MIM# 619297
Fetal anomalies v0.810 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Fetal anomalies v0.809 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.808 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Fetal anomalies v0.808 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Mendeliome v0.9932 BNC1 Bryony Thompson gene: BNC1 was added
gene: BNC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148; 30689869; 27301361
Phenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723
Review for gene: BNC1 was set to GREEN
Added comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.
PMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).
SCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
PMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases
PMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility
Sources: Literature
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Phenotypes for gene: ADAMTS3 were changed from Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 to Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564
Fetal anomalies v0.806 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence)
Fetal anomalies v0.806 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark changed review comment from: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth.
Sources: Expert list; to: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.
Sources: Expert list
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed phenotypes: Hennekam lymphangiectasia-lymphoedema syndrome 3, MIM# 618154
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Hydrops fetalis v0.213 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence)
Hydrops fetalis v0.213 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.212 ADAMTS3 Zornitza Stark changed review comment from: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth.
Sources: Expert list; to: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.
Sources: Expert list
Hydrops fetalis v0.212 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Marked gene: BNC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson edited their review of gene: BNC1: Changed publications: 34794894, 30010909, 16624857, 32962729, 32894148, 30689869, 27301361
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148
Mendeliome v0.9931 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Mendeliome v0.9930 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to 16642017
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.237 BNC1 Bryony Thompson Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.236 BNC1 Bryony Thompson Classified gene: BNC1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.236 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9929 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.235 BNC1 Bryony Thompson gene: BNC1 was added
gene: BNC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148
Phenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723
Review for gene: BNC1 was set to GREEN
Added comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.
PMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).
SCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
PMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases
PMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility
Sources: Literature
Mendeliome v0.9929 ACVR1 Zornitza Stark edited their review of gene: ACVR1: Changed publications: 16642017, 29089047; Changed phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100, Congenital heart disease
Fetal anomalies v0.805 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Mendeliome v0.9929 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.804 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to 16642017
Fetal anomalies v0.803 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Fetal anomalies v0.803 ACVR1 Zornitza Stark edited their review of gene: ACVR1: Changed publications: 16642017, 29089047
Mendeliome v0.9929 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Mendeliome v0.9929 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Mendeliome v0.9929 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from to Fibrodysplasia ossificans progressiva, MIM# 135100
Mendeliome v0.9928 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Mendeliome v0.9927 ACVR1 Zornitza Stark Mode of inheritance for gene: ACVR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.803 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Fetal anomalies v0.803 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.803 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA to Fibrodysplasia ossificans progressiva, MIM# 135100
Mendeliome v0.9926 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Mendeliome v0.9926 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Fetal anomalies v0.802 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Fetal anomalies v0.801 ACVR1 Zornitza Stark Mode of inheritance for gene: ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.800 ACVR1 Zornitza Stark Classified gene: ACVR1 as Green List (high evidence)
Fetal anomalies v0.800 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.799 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Phenotypes for gene: ELOVL4 were changed from ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION to Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457
Fetal anomalies v0.798 ELOVL4 Zornitza Stark Publications for gene: ELOVL4 were set to
Fetal anomalies v0.797 ELOVL4 Zornitza Stark reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.797 MYH8 Zornitza Stark Marked gene: MYH8 as ready
Fetal anomalies v0.797 MYH8 Zornitza Stark Gene: myh8 has been classified as Green List (High Evidence).
Fetal anomalies v0.797 MYH8 Zornitza Stark Phenotypes for gene: MYH8 were changed from CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE to Trismus-pseudocamptodactyly syndrome (MIM#158300)
Fetal anomalies v0.796 MYH8 Zornitza Stark Publications for gene: MYH8 were set to
Fetal anomalies v0.795 MYH8 Zornitza Stark Mode of inheritance for gene: MYH8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.794 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Fetal anomalies v0.794 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Fetal anomalies v0.794 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)
Fetal anomalies v0.793 MYH11 Zornitza Stark Publications for gene: MYH11 were set to 29575632; 25407000; 31427716
Fetal anomalies v0.792 MYH11 Zornitza Stark Mode of pathogenicity for gene: MYH11 was changed from to Other
Fetal anomalies v0.791 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.790 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Fetal anomalies v0.790 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Fetal anomalies v0.790 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia
Fetal anomalies v0.789 MYH10 Zornitza Stark Publications for gene: MYH10 were set to 30712878
Fetal anomalies v0.788 MYH10 Zornitza Stark Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.787 MYCN Zornitza Stark Marked gene: MYCN as ready
Fetal anomalies v0.787 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Fetal anomalies v0.787 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1 (MIM#164280)
Fetal anomalies v0.786 MYCN Zornitza Stark Publications for gene: MYCN were set to
Fetal anomalies v0.785 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Fetal anomalies v0.784 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Fetal anomalies v0.784 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.784 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Fetal anomalies v0.783 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Fetal anomalies v0.782 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.781 MSX1 Zornitza Stark Marked gene: MSX1 as ready
Fetal anomalies v0.781 MSX1 Zornitza Stark Gene: msx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.781 MSX1 Zornitza Stark Phenotypes for gene: MSX1 were changed from CLEFT LIP +/- CLEFT PALATE to Orofacial cleft 5 (MIM#608874)
Fetal anomalies v0.780 MSX1 Zornitza Stark Publications for gene: MSX1 were set to
Fetal anomalies v0.779 MSX1 Zornitza Stark Mode of inheritance for gene: MSX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9925 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Fetal anomalies v0.778 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Fetal anomalies v0.778 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Fetal anomalies v0.778 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 to Combined oxidative phosphorylation deficiency 5 (MIM#611719)
Fetal anomalies v0.777 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to 28425981
Mendeliome v0.9924 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.776 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Fetal anomalies v0.776 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Fetal anomalies v0.776 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency B (MIM#252160)
Fetal anomalies v0.775 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Mendeliome v0.9923 ANKRD31 Bryony Thompson Marked gene: ANKRD31 as ready
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9923 ANKRD31 Bryony Thompson Classified gene: ANKRD31 as Green List (high evidence)
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9922 ANKRD31 Bryony Thompson gene: ANKRD31 was added
gene: ANKRD31 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867
Phenotypes for gene: ANKRD31 were set to Premature ovarian failure
Review for gene: ANKRD31 was set to GREEN
Added comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Marked gene: ANKRD31 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Classified gene: ANKRD31 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.233 ANKRD31 Bryony Thompson gene: ANKRD31 was added
gene: ANKRD31 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867
Phenotypes for gene: ANKRD31 were set to Premature ovarian failure
Review for gene: ANKRD31 was set to GREEN
Added comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Marked gene: INSL3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Classified gene: INSL3 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.231 INSL3 Bryony Thompson gene: INSL3 was added
gene: INSL3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: INSL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INSL3 were set to 34794894; 33095795; 10391220; 30204868
Phenotypes for gene: INSL3 were set to Primary ovarian insufficiency
Review for gene: INSL3 was set to AMBER
Added comment: A single case with POI with a homozygous missense variant (p.Val18Met, 3 homozygotes in gnomAD v2.1). Additionally, female null mouse have impaired fertility associated with deregulation of the oestrous cycle
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson Marked gene: BMPR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 34794894; 33095795; 28306340; 25989972
Phenotypes for gene: BMPR2 were set to Primary ovarian insufficiency
Review for gene: BMPR2 was set to RED
Added comment: PMID: 33095795 - 1 POI case with missense p.Val453Met
PMID: 28306340, 25989972 - 1 POI case with p.Ser987Phe (unaffected mother also has the variant), and in vitro functional assays demonstrating a significant increase in protein-like aggregation patterns in the endoplasmic reticulum. However, there are 24 hets for the variant in gnomAD v2.1
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Marked gene: BMPR1A as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Classified gene: BMPR1A as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.228 BMPR1A Bryony Thompson gene: BMPR1A was added
gene: BMPR1A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1A were set to 28505269; 34794894; 31769494; 20363875
Phenotypes for gene: BMPR1A were set to Primary ovarian insufficiency
Review for gene: BMPR1A was set to AMBER
Added comment: Two POI cases reported with 2 different missense variants (p.Arg442His, p.Tyr425Cys). Arg442His has supporting in vitro functional evidence. Bmpr1a conditional knockout female mice are subfertile with reduced spontaneous ovulation. No POI reported in association with juvenile polyposis syndrome, which is caused by heterozygous variants in BMPR1A.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.227 GJA4 Bryony Thompson gene: GJA4 was added
gene: GJA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA4 were set to 34794894; 29207017
Phenotypes for gene: GJA4 were set to Primary ovarian insufficiency
Review for gene: GJA4 was set to RED
Added comment: A heterozygous missense (p.Gly316Ser) was identified in 2 POI cases and shown to have a dominant-negative effect on function. However, there are 768 hets and 10 homozygotes in gnomAD v2.1 which is too common for dominantly inherited disease.
Sources: Literature
Fetal anomalies v0.774 ELOVL4 Belinda Chong changed review comment from: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families.

OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).

OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects; to: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families.

OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).

OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects
Fetal anomalies v0.774 ELOVL4 Belinda Chong reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24566826, 26258735, 30065956, 22100072, 24571530, 33652762, 10634627, 8002834; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457, Spinocerebellar ataxia 34 MIM#133190, Stargardt disease 3 MIM#600110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.226 AMHR2 Bryony Thompson Classified gene: AMHR2 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.226 AMHR2 Bryony Thompson Gene: amhr2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 AMHR2 Bryony Thompson reviewed gene: AMHR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34794894, 31291191, 24912417, 27430550; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.774 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Fetal anomalies v0.774 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.774 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , MIM#300387
Fetal anomalies v0.773 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Fetal anomalies v0.772 ACSL4 Zornitza Stark Classified gene: ACSL4 as Green List (high evidence)
Fetal anomalies v0.772 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.771 ACSL4 Zornitza Stark changed review comment from: Comment when marking as ready: At least three unrelated individuals reported.; to: Comment when marking as ready: At least three unrelated individuals reported. Microcephaly reported.
Fetal anomalies v0.771 ACSL4 Zornitza Stark edited their review of gene: ACSL4: Changed rating: GREEN
Mitochondrial disease v0.667 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Mitochondrial disease v0.667 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.667 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mitochondrial disease v0.666 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mitochondrial disease v0.665 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9921 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Mendeliome v0.9921 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mendeliome v0.9921 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mendeliome v0.9920 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mendeliome v0.9919 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.771 ELN Belinda Chong reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9918 ACO2 Zornitza Stark Deleted their comment
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Added comment: At least 10 unrelated families reported. I am not convinced this gene causes two separate disorders, more likely a spectrum. OA has been reported as an isolated finding in one family, and a feature of a more complex and severe neurological presentation in the rest.; Changed publications: 22405087, 25351951, 30689204, 32519519, 25351951
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 22405087, 25351951, 30689204, 32519519
Fetal anomalies v0.771 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Fetal anomalies v0.771 ACO2 Zornitza Stark Gene: aco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.771 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, MIM# 614559
Fetal anomalies v0.770 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Fetal anomalies v0.769 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Marked gene: NOTCH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Gene: notch2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Classified gene: NOTCH2 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Gene: notch2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.224 NOTCH2 Bryony Thompson gene: NOTCH2 was added
gene: NOTCH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 34794894; 32772338; 32312275; 30304577; 28505269; 28283672
Phenotypes for gene: NOTCH2 were set to Primary ovarian insufficiency
Review for gene: NOTCH2 was set to GREEN
Added comment: At least 4 missense (in 5 women) with suggestive loss of function mechanisms and supporting mouse models
PMID: 32772338 - variable Hajdu-Cheney syndrome phenotype in family. Affected daughter with truncating variant not expected to cause NMD (pTrp2253Ter) had hypothalamic hypogonadism as a feature of the condition, but mother did not.
PMID: 32312275 - mother and daughter in a POI pedigree were both heterozygous for the missense p.Asp1853His (6 hets in gnomAD v2.1). In vitro functional assays of the variant demonstrated that it wasn't an activating mutation.
PMID: 30304577, 28505269 - 4 unrelated women with POI heterozygous for missense variants (p.Ser1804Leu, p.Gln1811His, p.Leu2408His, p.Pro2359Ala) and 1 woman suspected biallelic (p.Ala2316Val & p.Leu2408His). In vitro luciferase reporter assays in KGN cells demonstrated reduced function for S1804L (15% less), A2316V (27% less), and P2359A (14% less), the other missense were similar to WT. Additionally, p.Leu2408His has 583 hets in gnomAD v2.1. Suggested that POI is associated with loss of function, rather than the gain of function variants that cause Hajdu-Cheney syndrome and Alagille syndrome.
PMID: 28283672 - supporting conditional knockout mouse models
Sources: Literature
Fetal anomalies v0.769 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Fetal anomalies v0.769 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.769 ABL1 Zornitza Stark Publications for gene: ABL1 were set to
Fetal anomalies v0.768 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.767 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Fetal anomalies v0.767 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.766 MYH8 Daniel Flanagan reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949528, 17041932, 15282353; Phenotypes: Trismus-pseudocamptodactyly syndrome (MIM#158300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson Marked gene: LHX8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson Gene: lhx8 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson gene: LHX8 was added
gene: LHX8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904
Phenotypes for gene: LHX8 were set to Primary ovarian insufficiency
Review for gene: LHX8 was set to RED
Added comment: Only supporting mouse model. Same variant reported in 2 cases is too common
PMID: 34095689 - 1 POI case with missense p.Ala325Val, which has 533 hets and 22 homozygotes in gnomAD v2.1, too common for Mendelian disease
PMID: 29329412 - Lhx8 knockout mouse model demonstrates premature depletion of oocytes
PMID: 27603904 - 1 POI case also with p.Ala325Val
Sources: Literature
Fetal anomalies v0.766 MYH11 Daniel Flanagan reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31944481, 30071989, 16444274, 17666408, 27081537; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson Marked gene: PRDM1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson Gene: prdm1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson gene: PRDM1 was added
gene: PRDM1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM1 were set to 34794894; 33095795
Phenotypes for gene: PRDM1 were set to Primary ovarian insufficiency
Review for gene: PRDM1 was set to RED
Added comment: Single case heterozygous for a missense variant (c.1250C>G:p.P417R) with delayed puberty, congenital heart defect, café-au-lait spots, high arched palate, cubitus valgus, and hyperdontia.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.221 POU5F1 Bryony Thompson Publications for gene: POU5F1 were set to 21273125
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 POU5F1 Bryony Thompson reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 33095795; Phenotypes: Primary ovarian sufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYH10 Daniel Flanagan reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24825879, 24901346, 25356899, 22495309, 25003005; Phenotypes: Microcephaly, Hip dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYCN Daniel Flanagan reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18470948; Phenotypes: Feingold syndrome 1 (MIM#164280); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Fetal anomalies v0.766 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.766 ABCD4 Zornitza Stark Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
Fetal anomalies v0.765 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to
Fetal anomalies v0.764 ABCD4 Zornitza Stark changed review comment from: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.; to: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and haematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.

Congenital anomalies are very rarely reported, uncertain if they are part of the phenotype.
Fetal anomalies v0.764 ABCD4 Zornitza Stark edited their review of gene: ABCD4: Changed rating: AMBER
Fetal anomalies v0.764 AASS Zornitza Stark Marked gene: AASS as ready
Fetal anomalies v0.764 AASS Zornitza Stark Gene: aass has been classified as Red List (Low Evidence).
Fetal anomalies v0.764 AASS Zornitza Stark Classified gene: AASS as Red List (low evidence)
Fetal anomalies v0.764 AASS Zornitza Stark Gene: aass has been classified as Red List (Low Evidence).
Fetal anomalies v0.763 AASS Zornitza Stark changed review comment from: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.; to: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.

Given the uncertainty about whether this is a disease entity and lack of associated congenital anomalies or other features that would be detectable in the prenatal setting, downgraded to RED on this panel.
Mendeliome v0.9918 DAZL Bryony Thompson Marked gene: DAZL as ready
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.763 AASS Zornitza Stark edited their review of gene: AASS: Changed rating: RED
Fetal anomalies v0.763 AARS Zornitza Stark Tag new gene name tag was added to gene: AARS.
Fetal anomalies v0.763 AARS Zornitza Stark Marked gene: AARS as ready
Fetal anomalies v0.763 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Fetal anomalies v0.763 AARS Zornitza Stark Publications for gene: AARS were set to
Fetal anomalies v0.762 AARS Zornitza Stark Classified gene: AARS as Green List (high evidence)
Fetal anomalies v0.762 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Mendeliome v0.9918 DAZL Bryony Thompson Classified gene: DAZL as Amber List (moderate evidence)
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9917 DAZL Bryony Thompson gene: DAZL was added
gene: DAZL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969
Phenotypes for gene: DAZL were set to Primary ovarian insufficiency
Review for gene: DAZL was set to AMBER
Added comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Fetal anomalies v0.761 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Marked gene: DAZL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Classified gene: DAZL as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.219 DAZL Bryony Thompson gene: DAZL was added
gene: DAZL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969
Phenotypes for gene: DAZL were set to Primary ovarian insufficiency
Review for gene: DAZL was set to AMBER
Added comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Fetal anomalies v0.761 MSX1 Daniel Flanagan reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742093, 12807959; Phenotypes: Orofacial cleft 5 (MIM#608874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson Marked gene: BMP8B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson Gene: bmp8b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson gene: BMP8B was added
gene: BMP8B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMP8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP8B were set to 34794894; 33095795; 10894154; 22579288
Phenotypes for gene: BMP8B were set to Primary ovarian insufficiency
Review for gene: BMP8B was set to RED
Added comment: Two heterozygous POI cases, one with p.Met342Val which has 32 hets in gnomAD v2.1 and p.Arg260Cys which has 642 hets in gnomAD v2.1. Both more common than expected for Mendelian disease. Knockout mouse models have defective primordial germ cell formation.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson Marked gene: ATG9A as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson gene: ATG9A was added
gene: ATG9A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ATG9A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATG9A were set to 34794894; 30224786
Phenotypes for gene: ATG9A were set to Primary ovarian insufficiency
Review for gene: ATG9A was set to RED
Added comment: Single heterozygous case reported, with in vitro functional assay supporting a loss of function mechanism for the missense variant.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Marked gene: ATG7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Classified gene: ATG7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.215 ATG7 Bryony Thompson gene: ATG7 was added
gene: ATG7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34794894; 34161705; 30224786; 25590799
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency
Review for gene: ATG7 was set to AMBER
Added comment: PMID: 30224786 - a heterozygous missense (p.Phe403Leu) in a single proband with POI and in vitro functional assays supporting loss of function for the variant.
PMID: 34161705 - one family with biallelic variants and SCAR31 had late-onset or no puberty, and another patient with SCAR31 from another family presented with hypogonadotropic hypogonadism and gynecomastia (2/5 families reported with endocrine features).
PMID: 25590799 - germ cell-specific mouse Atg7 knockout recapitulates the human POI phenotype
Sources: Literature
Fetal anomalies v0.761 MRPS22 Daniel Flanagan reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21189481, 17873122, 25663021; Phenotypes: Combined oxidative phosphorylation deficiency 5 (MIM#611719); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Marked gene: GATA4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Classified gene: GATA4 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.213 GATA4 Bryony Thompson gene: GATA4 was added
gene: GATA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: GATA4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GATA4 were set to 34794894; 33095795; 29544631
Phenotypes for gene: GATA4 were set to Primary ovarian insufficiency; congenital heart defect
Review for gene: GATA4 was set to AMBER
Added comment: One woman with a homozygous missense (p.Pro407Arg) and POI, sensorineural deafness, congenital heart defect, and kidney insufficiency. Another woman with a heterozygous missense variant (p.Ala94Thr) with secondary amenorrhea (but no mention of congenital heart defects). Also, supporting mouse models for a role for GATA4 in ovarian development.
Sources: Literature
Fetal anomalies v0.761 MOCS2 Daniel Flanagan reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.761 DARS Zornitza Stark changed review comment from: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.; to: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord.

HGNC approved name DARS1.
Fetal anomalies v0.761 DARS Zornitza Stark Marked gene: DARS as ready
Fetal anomalies v0.761 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Fetal anomalies v0.761 DARS Zornitza Stark Phenotypes for gene: DARS were changed from HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Fetal anomalies v0.760 DARS Zornitza Stark Publications for gene: DARS were set to
Fetal anomalies v0.759 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Fetal anomalies v0.759 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Fetal anomalies v0.759 DAG1 Zornitza Stark Gene: dag1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9916 DAG1 Zornitza Stark Publications for gene: DAG1 were set to 29337005; 25503980
Mendeliome v0.9915 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21388311, 25934851, 24052401, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.759 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Fetal anomalies v0.758 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Fetal anomalies v0.757 DAG1 Zornitza Stark Classified gene: DAG1 as Amber List (moderate evidence)
Fetal anomalies v0.757 DAG1 Zornitza Stark Gene: dag1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.756 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25934851, 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.756 CYP21A2 Zornitza Stark Tag SV/CNV tag was added to gene: CYP21A2.
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 56, autosomal recessive, MIM#615030
Fetal anomalies v0.755 CYP2U1 Zornitza Stark Classified gene: CYP2U1 as Red List (low evidence)
Fetal anomalies v0.755 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.754 CYP2U1 Zornitza Stark changed review comment from: Neurodegenerative condition rather than truly ID.; to: Neurodegenerative condition with onset in the first decade.
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Phenotypes for gene: CYP21A2 were changed from Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910
Fetal anomalies v0.753 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from PRIMARY CONGENITAL GLAUCOMA TYPE 3A to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300
Fetal anomalies v0.752 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Fetal anomalies v0.751 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.750 CYP1B1 Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.232 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Differences of Sex Development v0.232 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.232 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Differences of Sex Development v0.231 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Differences of Sex Development v0.230 CYP17A1 Zornitza Stark Mode of inheritance for gene: CYP17A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.229 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9915 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Mendeliome v0.9915 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Mendeliome v0.9915 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Mendeliome v0.9914 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Mendeliome v0.9913 CYP17A1 Zornitza Stark Mode of inheritance for gene: CYP17A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Fetal anomalies v0.749 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Fetal anomalies v0.748 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.229 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Differences of Sex Development v0.229 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.229 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Differences of Sex Development v0.228 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Differences of Sex Development v0.227 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.226 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Mendeliome v0.9912 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Mendeliome v0.9912 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Aldosteronism, glucocorticoid-remediable, MIM# 103900
Mendeliome v0.9911 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Mendeliome v0.9910 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848, 1731223, 29703198; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010, Aldosteronism, glucocorticoid-remediable, MIM# 103900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Fetal anomalies v0.747 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Fetal anomalies v0.746 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.745 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.342 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Callosome v0.342 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Red List (Low Evidence).
Callosome v0.342 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Callosome v0.341 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Callosome v0.340 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.226 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Differences of Sex Development v0.226 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Callosome v0.339 CYP11A1 Zornitza Stark Classified gene: CYP11A1 as Red List (low evidence)
Callosome v0.339 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.226 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Callosome v0.338 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: RED; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448, 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.225 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Mendeliome v0.9909 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Mendeliome v0.9909 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.224 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Differences of Sex Development v0.223 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448, 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9908 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Mendeliome v0.9907 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9906 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448, 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.745 CYP11A1 Zornitza Stark edited their review of gene: CYP11A1: Changed publications: 12161514, 16705068, 18182448, 28425981
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Fetal anomalies v0.744 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to 28425981
Fetal anomalies v0.743 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4316 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Intellectual disability syndromic and non-syndromic v0.4316 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4316 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Intellectual disability syndromic and non-syndromic v0.4315 CWC27 Zornitza Stark Publications for gene: CWC27 were set to
Intellectual disability syndromic and non-syndromic v0.4314 CWC27 Zornitza Stark Mode of inheritance for gene: CWC27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4313 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9906 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Mendeliome v0.9906 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Mendeliome v0.9906 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Mendeliome v0.9905 CWC27 Zornitza Stark Publications for gene: CWC27 were set to
Mendeliome v0.9904 CWC27 Zornitza Stark Mode of inheritance for gene: CWC27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.743 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Fetal anomalies v0.743 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Fetal anomalies v0.743 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa, skeletal anomalies and intellectual disability to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Fetal anomalies v0.742 CWC27 Zornitza Stark Publications for gene: CWC27 were set to 28285769
Fetal anomalies v0.741 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.741 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Fetal anomalies v0.741 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Fetal anomalies v0.741 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M SYNDROME 1 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Fetal anomalies v0.740 CUL7 Zornitza Stark Publications for gene: CUL7 were set to
Fetal anomalies v0.739 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Marked gene: PPIB as ready
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from to Osteogenesis imperfecta, type IX, MIM# 259440
Osteogenesis Imperfecta and Osteoporosis v0.70 PPIB Zornitza Stark Publications for gene: PPIB were set to
Osteogenesis Imperfecta and Osteoporosis v0.69 PPIB Zornitza Stark Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.68 PPIB Zornitza Stark reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 PPIB Zornitza Stark Marked gene: PPIB as ready
Mendeliome v0.9903 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Mendeliome v0.9903 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from to Osteogenesis imperfecta, type IX, MIM# 259440
Mendeliome v0.9902 PPIB Zornitza Stark Publications for gene: PPIB were set to
Mendeliome v0.9901 PPIB Zornitza Stark Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9900 PPIB Zornitza Stark reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.739 PPIB Zornitza Stark Marked gene: PPIB as ready
Fetal anomalies v0.739 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Fetal anomalies v0.739 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX 259440 to Osteogenesis imperfecta, type IX, MIM# 259440
Fetal anomalies v0.738 PPIB Zornitza Stark Publications for gene: PPIB were set to
Fetal anomalies v0.737 PPIB Naomi Baker changed review comment from: Well established gene-disease association with lethal or severe phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.; to: Well established gene-disease association with lethal or severe OI phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.
Fetal anomalies v0.737 PPIB Naomi Baker reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Marked gene: BMPR1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Classified gene: BMPR1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.210 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: BMPR1B were set to 34794894; 15805157; 28505269; 31769494
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency
Review for gene: BMPR1B was set to AMBER
Added comment: A homozygous truncating variant in a syndromic case with hypergonadic hypogonadism as a feature of the condition. Two unrelated POI cases with a heterozygous missense variant (p.Arg254His and p.Phe272Leu). In vitro functional assay data demonstrating p.Phe272Leu alters BMP signalling.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Marked gene: TP63 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Gene: tp63 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Classified gene: TP63 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Gene: tp63 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.208 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
SV/CNV tags were added to gene: TP63.
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to 34794894; 17609671; 30924587; 30689869; 32067224
Phenotypes for gene: TP63 were set to Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292
Review for gene: TP63 was set to GREEN
Added comment: At least 6 cases with nonsyndromic or syndromic POI with CNVs or SNV/small indel truncating variants.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Marked gene: PREPL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Classified gene: PREPL as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.206 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803
Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome; premature ovarian failure
Review for gene: PREPL was set to GREEN
Added comment: At least 5 unrelated cases reported with hypergonadotrophic hypogonadism or absence of the ovaries as a feature of the condition.
Sources: Literature
Mendeliome v0.9900 POLR3H Bryony Thompson Marked gene: POLR3H as ready
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9900 POLR3H Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence)
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9899 POLR3H Bryony Thompson gene: POLR3H was added
gene: POLR3H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3H were set to 34794894; 30830215
Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency
Review for gene: POLR3H was set to AMBER
Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Marked gene: POLR3H as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.204 POLR3H Bryony Thompson gene: POLR3H was added
gene: POLR3H was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3H were set to 34794894; 30830215
Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency
Review for gene: POLR3H was set to AMBER
Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: Literature
Mendeliome v0.9898 POLR2C Bryony Thompson Marked gene: POLR2C as ready
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9898 POLR2C Bryony Thompson Classified gene: POLR2C as Amber List (moderate evidence)
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Marked gene: POLR2C as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9897 POLR2C Bryony Thompson gene: POLR2C was added
gene: POLR2C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Review for gene: POLR2C was set to AMBER
Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.
Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1).
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Classified gene: POLR2C as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.202 POLR2C Bryony Thompson gene: POLR2C was added
gene: POLR2C was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Review for gene: POLR2C was set to AMBER
Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.
Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4313 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Intellectual disability syndromic and non-syndromic v0.4313 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4313 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Intellectual disability syndromic and non-syndromic v0.4312 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Intellectual disability syndromic and non-syndromic v0.4311 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4310 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mitochondrial disease v0.663 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mitochondrial disease v0.662 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.661 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9896 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Mendeliome v0.9896 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mendeliome v0.9896 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mendeliome v0.9895 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mendeliome v0.9894 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9893 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.737 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Fetal anomalies v0.737 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Fetal anomalies v0.737 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY to Combined oxidative phosphorylation deficiency 17, MIM#615440
Fetal anomalies v0.736 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Marked gene: KHDRBS1 as ready
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence)
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9892 KHDRBS1 Bryony Thompson gene: KHDRBS1 was added
gene: KHDRBS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015
Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure
Review for gene: KHDRBS1 was set to GREEN
Added comment: 4 cases in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Marked gene: KHDRBS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.200 KHDRBS1 Bryony Thompson gene: KHDRBS1 was added
gene: KHDRBS1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015
Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure
Review for gene: KHDRBS1 was set to GREEN
Added comment: 4 cases in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Marked gene: DCAF17 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Classified gene: DCAF17 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.198 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 34590781; 34794894; 19026396
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome MIM#241080
Review for gene: DCAF17 was set to GREEN
gene: DCAF17 was marked as current diagnostic
Added comment: Primary hypogonadism (including primary ovarian failure) is a common feature of the condition.
Sources: Literature
Fetal anomalies v0.735 ELAC2 Belinda Chong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17 MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson Marked gene: ANTXR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson Gene: antxr1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson gene: ANTXR1 was added
gene: ANTXR1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 34794894; 27426988; 16272061; 2248288; 17262136
Phenotypes for gene: ANTXR1 were set to GAPO syndrome MIM#230740
Review for gene: ANTXR1 was set to RED
Added comment: Premature ovarian insufficiency has been reported in at least 5 cases with GAPO syndrome from 4 families, but only one individual had been genetically confirmed to have an ANTXR1 pathogenic variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4310 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Intellectual disability syndromic and non-syndromic v0.4310 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4310 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Intellectual disability syndromic and non-syndromic v0.4309 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Intellectual disability syndromic and non-syndromic v0.4308 CUL4B Zornitza Stark Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4307 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9891 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Mendeliome v0.9891 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Mendeliome v0.9891 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Mendeliome v0.9890 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Mendeliome v0.9889 CUL4B Zornitza Stark Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.735 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Fetal anomalies v0.735 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Fetal anomalies v0.735 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Fetal anomalies v0.734 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Fetal anomalies v0.733 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CTSK Zornitza Stark Marked gene: CTSK as ready
Mendeliome v0.9888 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Mendeliome v0.9888 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from to Pycnodysostosis, MIM# 265800
Mendeliome v0.9887 CTSK Zornitza Stark Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9886 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.733 CTSK Zornitza Stark Marked gene: CTSK as ready
Fetal anomalies v0.733 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Fetal anomalies v0.733 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from PYCNODYSOSTOSIS to Pycnodysostosis, MIM# 265800
Fetal anomalies v0.732 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.732 CTSD Zornitza Stark Marked gene: CTSD as ready
Fetal anomalies v0.732 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Fetal anomalies v0.732 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Fetal anomalies v0.731 CTSD Zornitza Stark Publications for gene: CTSD were set to
Fetal anomalies v0.730 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558577; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.729 CTSA Zornitza Stark Marked gene: CTSA as ready
Fetal anomalies v0.729 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Fetal anomalies v0.729 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from GALACTOSIALIDOSIS to Galactosialidosis, MIM# 256540
Fetal anomalies v0.728 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7759227; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4307 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Intellectual disability syndromic and non-syndromic v0.4307 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4307 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Intellectual disability syndromic and non-syndromic v0.4306 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Intellectual disability syndromic and non-syndromic v0.4305 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4304 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 24614104, 25326669, 27915094; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Fetal anomalies v0.727 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to 27915094
Fetal anomalies v0.726 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.725 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 24614104, 25326669, 27915094; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.151 CTCF Zornitza Stark Marked gene: CTCF as ready
Clefting disorders v0.151 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Clefting disorders v0.151 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 to Mental retardation, autosomal dominant 21 (MIM#615502)
Clefting disorders v0.150 CTCF Zornitza Stark Publications for gene: CTCF were set to
Clefting disorders v0.149 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.148 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9886 CTCF Zornitza Stark Marked gene: CTCF as ready
Mendeliome v0.9886 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Mendeliome v0.9886 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Mendeliome v0.9885 CTCF Zornitza Stark Publications for gene: CTCF were set to
Mendeliome v0.9884 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.725 CTCF Zornitza Stark Marked gene: CTCF as ready
Fetal anomalies v0.725 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Fetal anomalies v0.725 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 21 (MIM#615502)
Fetal anomalies v0.724 CTCF Zornitza Stark Publications for gene: CTCF were set to
Fetal anomalies v0.723 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.723 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.722 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Fetal anomalies v0.722 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.722 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Fetal anomalies v0.721 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Fetal anomalies v0.720 CTC1 Zornitza Stark Deleted their comment
Fetal anomalies v0.720 CTC1 Zornitza Stark edited their review of gene: CTC1: Added comment: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia.

Multiple families reported.; Changed rating: GREEN; Changed publications: 22267198
Fetal anomalies v0.720 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Fetal anomalies v0.720 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.720 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Fetal anomalies v0.719 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Intellectual disability syndromic and non-syndromic v0.4304 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Intellectual disability syndromic and non-syndromic v0.4304 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4304 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Intellectual disability syndromic and non-syndromic v0.4303 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Intellectual disability syndromic and non-syndromic v0.4302 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4301 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Mendeliome v0.9882 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Mendeliome v0.9881 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062 to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Fetal anomalies v0.717 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Fetal anomalies v0.716 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.715 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.319 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Cataract v0.319 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Cataract v0.319 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from to Cataract 4, multiple types, MIM# 115700
Cataract v0.318 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Cataract v0.317 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.316 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Mendeliome v0.9880 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Mendeliome v0.9880 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from to Cataract 4, multiple types, MIM# 115700
Mendeliome v0.9879 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Mendeliome v0.9878 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.715 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Fetal anomalies v0.715 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Fetal anomalies v0.715 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3 to Cataract 4, multiple types, MIM# 115700
Fetal anomalies v0.714 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Fetal anomalies v0.713 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.316 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Cataract v0.316 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Cataract v0.316 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from to Cataract 2, multiple types, MIM# 604307
Cataract v0.315 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Cataract v0.314 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.313 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Mendeliome v0.9877 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Mendeliome v0.9877 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from to Cataract 2, multiple types, MIM# 604307
Mendeliome v0.9876 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Mendeliome v0.9875 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9874 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Fetal anomalies v0.712 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Fetal anomalies v0.712 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from CATARACT AUTOSOMAL DOMINANT to Cataract 2, multiple types, MIM# 604307
Fetal anomalies v0.711 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Fetal anomalies v0.710 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.709 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.313 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Cataract v0.313 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Cataract v0.313 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from to Cataract 22, MIM# 609741
Cataract v0.312 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Cataract v0.311 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.310 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9874 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Mendeliome v0.9874 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Mendeliome v0.9874 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from to Cataract 22, MIM# 609741
Mendeliome v0.9873 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Mendeliome v0.9872 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9871 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, MIM# 609741
Fetal anomalies v0.708 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Fetal anomalies v0.707 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.706 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.310 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Cataract v0.310 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Cataract v0.310 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from to Cataract 3, multiple types, MIM# 601547
Cataract v0.309 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Cataract v0.308 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.307 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9871 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Mendeliome v0.9871 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Mendeliome v0.9871 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from to Cataract 3, multiple types, MIM# 601547
Mendeliome v0.9870 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Mendeliome v0.9869 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9868 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2 to Cataract 3, multiple types, MIM# 601547
Fetal anomalies v0.705 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Fetal anomalies v0.704 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.703 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.307 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Cataract v0.307 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Cataract v0.307 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from to Cataract 17, multiple types, MIM# 611544
Cataract v0.306 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Cataract v0.305 CRYBB1 Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.304 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9868 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Mendeliome v0.9868 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Mendeliome v0.9868 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from to Cataract 17, multiple types, MIM# 611544
Mendeliome v0.9867 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Mendeliome v0.9866 CRYBB1 Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to Cataract 17, multiple types, MIM# 611544
Fetal anomalies v0.702 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Fetal anomalies v0.701 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Inflammatory bowel disease
Mendeliome v0.9864 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Mendeliome v0.9863 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243, 34030699, 33446651, 32521965, 31299923; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744, Inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
Autoinflammatory Disorders v0.123 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Autoinflammatory Disorders v0.122 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.121 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Mode of inheritance: None
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923
Inflammatory bowel disease v0.62 TNFAIP3 Zornitza Stark Classified gene: TNFAIP3 as Green List (high evidence)
Inflammatory bowel disease v0.62 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.350 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Interstitial Lung Disease v0.349 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9862 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Pulmonary Fibrosis_Interstitial Lung Disease v0.38 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Pulmonary Fibrosis_Interstitial Lung Disease v0.37 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Mendeliome v0.9860 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621
Hereditary Spastic Paraplegia - paediatric v1.21 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Hereditary Spastic Paraplegia - paediatric v1.20 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 84, autosomal recessive, MIM# 619621; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9860 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Mendeliome v0.9860 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9860 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to {Obesity, susceptibility to, BMIQ4} 607447; Hyperinsulinism
Mendeliome v0.9859 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Mendeliome v0.9858 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9857 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Mendeliome v0.9857 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9856 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272, 11381268; Phenotypes: {Obesity, susceptibility to, BMIQ4} 607447, Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.61 TNFAIP3 Lavvina Thiyagarajan gene: TNFAIP3 was added
gene: TNFAIP3 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923
Phenotypes for gene: TNFAIP3 were set to Inflammatory bowel disease; Crohn's disease; Autoinflammatory syndrome, familial, Behcet-like
Penetrance for gene: TNFAIP3 were set to unknown
Review for gene: TNFAIP3 was set to GREEN
Added comment: 4 unrelated individuals with inflammatory bowel disease and variants TNFAIP3 - haploinsufficiency suggested as disease mechanism.
Sources: Literature
Mendeliome v0.9856 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Mendeliome v0.9856 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Mendeliome v0.9856 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425
Mendeliome v0.9855 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Mendeliome v0.9854 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9853 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.304 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Cataract v0.304 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Cataract v0.304 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425
Cataract v0.303 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Cataract v0.302 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.301 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted