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Mendeliome v0.1337 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Mendeliome v0.1336 EML1 Zornitza Stark Publications for gene: EML1 were set to
Mendeliome v0.1335 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1334 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Mendeliome v0.1334 ELMO2 Zornitza Stark Classified gene: ELMO2 as Green List (high evidence)
Mendeliome v0.1334 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Mendeliome v0.1333 ELMO2 Zornitza Stark gene: ELMO2 was added
gene: ELMO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Review for gene: ELMO2 was set to GREEN
Added comment: Five unrelated families reported.
Sources: Expert list
Mendeliome v0.1332 HHIP Zornitza Stark Gene: hhip has been classified as Red List (Low Evidence).
Mendeliome v0.1332 HHIP Zornitza Stark Publications for gene: HHIP were set to
Mendeliome v0.1331 HHIP Zornitza Stark Classified gene: HHIP as Red List (low evidence)
Mendeliome v0.1331 HHIP Zornitza Stark Gene: hhip has been classified as Red List (Low Evidence).
Mendeliome v0.1330 HHIP Zornitza Stark edited their review of gene: HHIP: Changed rating: RED
Mendeliome v0.1330 HHIP Zornitza Stark reviewed gene: HHIP: Rating: ; Mode of pathogenicity: None; Publications: 27082974, 31631996; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Red List (Low Evidence).
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Publications for gene: FRA10AC1 were set to
Mendeliome v0.1329 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Red List (low evidence)
Mendeliome v0.1329 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Red List (Low Evidence).
Mendeliome v0.1328 FRA10AC1 Zornitza Stark reviewed gene: FRA10AC1: Rating: RED; Mode of pathogenicity: None; Publications: 15203205; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1328 MMP25 Zornitza Stark Gene: mmp25 has been classified as Red List (Low Evidence).
Mendeliome v0.1328 MMP25 Zornitza Stark Classified gene: MMP25 as Red List (low evidence)
Mendeliome v0.1328 MMP25 Zornitza Stark Gene: mmp25 has been classified as Red List (Low Evidence).
Mendeliome v0.1327 MMP25 Zornitza Stark reviewed gene: MMP25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1327 EML1 Ain Roesley reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1327 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.1326 MAP3K20 Bryony Thompson Classified gene: MAP3K20 as Green List (high evidence)
Mendeliome v0.1326 MAP3K20 Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence).
Mendeliome v0.1325 MAP3K20 Bryony Thompson gene: MAP3K20 was added
gene: MAP3K20 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 27816943; 26755636
Phenotypes for gene: MAP3K20 were set to Centronuclear myopathy 6 with fiber-type disproportion MIM#617760; Split-foot malformation with mesoaxial polydactyly MIM#616890
Review for gene: MAP3K20 was set to GREEN
Added comment: 3 unrelated consanguineous families homozygous for 3 different variants with centronuclear myopathy, and at least 2 families reported with split-foot malformation. Null mouse model is embryonic lethal due to severe cardiac edema and growth retardation. Gene alias of ZAK used in the published studies.
Sources: Expert list
Mendeliome v0.1324 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Mendeliome v0.1324 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from to Autism
Mendeliome v0.1323 PCDH10 Zornitza Stark Publications for gene: PCDH10 were set to
Mendeliome v0.1322 PCDH10 Zornitza Stark Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1321 PCDH10 Zornitza Stark Classified gene: PCDH10 as Red List (low evidence)
Mendeliome v0.1321 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Mendeliome v0.1320 PCDH10 Zornitza Stark reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1320 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1320 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Mendeliome v0.1319 LNPK Zornitza Stark Publications for gene: LNPK were set to
Mendeliome v0.1318 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1317 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Mendeliome v0.1317 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1316 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1316 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Mendeliome v0.1316 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Mendeliome v0.1315 KIF4A Zornitza Stark Publications for gene: KIF4A were set to
Mendeliome v0.1314 KIF4A Zornitza Stark Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1313 KIF4A Zornitza Stark Classified gene: KIF4A as Red List (low evidence)
Mendeliome v0.1313 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Mendeliome v0.1312 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1312 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Mendeliome v0.1312 KCNK4 Zornitza Stark Phenotypes for gene: KCNK4 were changed from to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Mendeliome v0.1311 KCNK4 Zornitza Stark Publications for gene: KCNK4 were set to
Mendeliome v0.1310 KCNK4 Zornitza Stark Mode of pathogenicity for gene: KCNK4 was changed from to Other
Mendeliome v0.1309 KCNK4 Zornitza Stark Mode of inheritance for gene: KCNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1308 KCNK4 Zornitza Stark reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1308 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Mendeliome v0.1308 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Mendeliome v0.1308 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Mendeliome v0.1307 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Mendeliome v0.1306 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1305 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Mendeliome v0.1305 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Mendeliome v0.1304 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1304 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Mendeliome v0.1304 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy
Mendeliome v0.1303 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Mendeliome v0.1302 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1301 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Mendeliome v0.1301 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)
Mendeliome v0.1300 IDUA Zornitza Stark Publications for gene: IDUA were set to
Mendeliome v0.1299 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1298 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Mendeliome v0.1298 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM#608629
Mendeliome v0.1297 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Mendeliome v0.1296 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1295 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Mendeliome v0.1295 TGM5 Zornitza Stark Gene: tgm5 has been classified as Green List (High Evidence).
Mendeliome v0.1295 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM# 609796
Mendeliome v0.1294 TGM5 Zornitza Stark Publications for gene: TGM5 were set to
Mendeliome v0.1293 TGM5 Zornitza Stark Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1292 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Mendeliome v0.1292 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from to ?Epidermolysis bullosa simplex with nail dystrophy, MIM# 616487; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Mendeliome v0.1291 PLEC Zornitza Stark Publications for gene: PLEC were set to
Mendeliome v0.1290 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1289 SCO2 Elena Savva reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31844624, 29351582, 26427993; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, Charcot-Marie-Tooth type 4, Cerebellar ataxia and progressive peripheral axonal neuropthy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1289 IDUA Crystle Lee reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28752568, 12865757; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1289 AHI1 Elena Savva commented on gene: AHI1: Functional assays using zebrafish model support that the C-terminal SH3 domain is not required (PMID: 25616960)
Mendeliome v0.1289 AHI1 Elena Savva reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25616960; Phenotypes: Joubert syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1289 TGM5 Elena Savva reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16380904; Phenotypes: Peeling skin syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1289 PLEC Elena Savva reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22144912; Phenotypes: ?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1289 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Mendeliome v0.1289 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1
Mendeliome v0.1288 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Mendeliome v0.1287 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1286 BEST1 Zornitza Stark Marked gene: BEST1 as ready
Mendeliome v0.1286 BEST1 Zornitza Stark Gene: best1 has been classified as Green List (High Evidence).
Mendeliome v0.1286 BEST1 Zornitza Stark Mode of pathogenicity for gene: BEST1 was changed from to Other
Mendeliome v0.1285 WNT10A Elena Savva reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1285 BEST1 Zornitza Stark Publications for gene: BEST1 were set to
Mendeliome v0.1284 BEST1 Zornitza Stark Phenotypes for gene: BEST1 were changed from to Bestrophinopathy, autosomal recessive, MIM# 611809; Macular dystrophy, vitelliform, 2 MIM# 153700; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220; Retinitis pigmentosa-50, MIM# 613194; Retinitis pigmentosa, concentric, MIM# 61319; Vitreoretinochoroidopathy,MIM# 193220
Mendeliome v0.1283 BEST1 Zornitza Stark Mode of inheritance for gene: BEST1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1282 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1282 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Mendeliome v0.1281 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Mendeliome v0.1280 IGBP1 Zornitza Stark Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1279 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Mendeliome v0.1279 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1278 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1278 BEST1 Elena Savva reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29668979; Phenotypes: Bestrophinopathy, Macular dystrophy, vitelliform, 2, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa-50, Retinitis pigmentosa, concentric, Vitreoretinochoroidopathy; Mode of inheritance: None
Mendeliome v0.1278 HSPG2 Elena Savva reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16927315; Phenotypes: Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1278 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Mendeliome v0.1278 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Mendeliome v0.1277 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM#309530
Mendeliome v0.1276 IQSEC2 Zornitza Stark Mode of pathogenicity for gene: IQSEC2 was changed from to Other
Mendeliome v0.1275 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 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 v0.1274 IQSEC2 Elena Savva reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78; 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 v0.1274 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Mendeliome v0.1274 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Mendeliome v0.1274 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Mendeliome v0.1273 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Mendeliome v0.1272 RCC1L Zornitza Stark Gene: rcc1l has been classified as Red List (Low Evidence).
Mendeliome v0.1272 RCC1L Zornitza Stark Classified gene: RCC1L as Red List (low evidence)
Mendeliome v0.1272 RCC1L Zornitza Stark Gene: rcc1l has been classified as Red List (Low Evidence).
Mendeliome v0.1271 HDAC4 Zornitza Stark changed review comment from: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).; to: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).
Mendeliome v0.1271 HDAC4 Zornitza Stark Added comment: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).
Mendeliome v0.1271 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1271 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Mendeliome v0.1270 HDAC4 Zornitza Stark Mode of pathogenicity for gene: HDAC4 was changed from to Other
Mendeliome v0.1269 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Mendeliome v0.1268 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1267 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Mendeliome v0.1267 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1266 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1266 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration
Mendeliome v0.1265 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Mendeliome v0.1264 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1263 UBR4 Zornitza Stark Classified gene: UBR4 as Amber List (moderate evidence)
Mendeliome v0.1263 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1262 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1262 HDAC4 Elena Savva reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1262 RCC1L Belinda Chong reviewed gene: RCC1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1262 GMNN Zornitza Stark Gene: gmnn has been classified as Green List (High Evidence).
Mendeliome v0.1262 GMNN Zornitza Stark Phenotypes for gene: GMNN were changed from to Meier-Gorlin syndrome 6, MIM# 616835
Mendeliome v0.1261 GMNN Zornitza Stark Publications for gene: GMNN were set to
Mendeliome v0.1260 GMNN Zornitza Stark Mode of inheritance for gene: GMNN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1259 GMNN Zornitza Stark reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637980; Phenotypes: Meier-Gorlin syndrome 6, MIM# 616835; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Mendeliome v0.1258 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Mendeliome v0.1257 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Mendeliome v0.1257 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Mendeliome v0.1257 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Mendeliome v0.1256 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Mendeliome v0.1255 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1255 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Mendeliome v0.1255 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1254 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Mendeliome v0.1253 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Mendeliome v0.1253 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Mendeliome v0.1253 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Mendeliome v0.1253 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Mendeliome v0.1252 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Mendeliome v0.1251 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Mendeliome v0.1251 GABBR2 Zornitza Stark Phenotypes for gene: GABBR2 were changed from to Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Mendeliome v0.1250 GABBR2 Zornitza Stark Publications for gene: GABBR2 were set to
Mendeliome v0.1249 GABBR2 Zornitza Stark Mode of inheritance for gene: GABBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1248 GABBR2 Zornitza Stark reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 28061363, 28135719, 28856709, 29369404, 29377213; Phenotypes: Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1248 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Green List (High Evidence).
Mendeliome v0.1248 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Mendeliome v0.1248 SERPINI1 Zornitza Stark Publications for gene: SERPINI1 were set to
Mendeliome v0.1247 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Mendeliome v0.1246 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Mendeliome v0.1245 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1244 SERPINI1 Zornitza Stark Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Mendeliome v0.1243 SERPINI1 Zornitza Stark Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1242 SERPINI1 Zornitza Stark reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1242 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Mendeliome v0.1242 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Mendeliome v0.1242 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Mendeliome v0.1241 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Mendeliome v0.1240 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1239 HNRNPU Crystle Lee reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54 (MIM#617391); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1239 TTC7A Melanie Marty reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1239 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Mendeliome v0.1239 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Mendeliome v0.1238 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1237 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1237 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Mendeliome v0.1236 SASS6 Zornitza Stark Publications for gene: SASS6 were set to
Mendeliome v0.1235 SASS6 Zornitza Stark Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1234 SASS6 Zornitza Stark Classified gene: SASS6 as Amber List (moderate evidence)
Mendeliome v0.1234 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1233 SASS6 Zornitza Stark reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1233 ACTB Sebastian Lunke Marked gene: ACTB as ready
Mendeliome v0.1233 ACTB Sebastian Lunke Gene: actb has been classified as Green List (High Evidence).
Mendeliome v0.1233 ACTB Sebastian Lunke Publications for gene: ACTB were set to
Mendeliome v0.1232 ACTB Sebastian Lunke Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder
Mendeliome v0.1231 ACTB Sebastian Lunke Added comment: Comment on mode of pathogenicity: Both GoF and LoF described
Mendeliome v0.1231 ACTB Sebastian Lunke Mode of pathogenicity for gene: ACTB was changed from to Other
Mendeliome v0.1230 ACTB Sebastian Lunke Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Gene: elmod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Publications for gene: ELMOD2 were set to
Mendeliome v0.1228 ELMOD2 Sebastian Lunke Classified gene: ELMOD2 as Red List (low evidence)
Mendeliome v0.1228 ELMOD2 Sebastian Lunke Gene: elmod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1227 ELMOD2 Sebastian Lunke reviewed gene: ELMOD2: Rating: RED; Mode of pathogenicity: None; Publications: 16773575; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1227 GCKR Sebastian Lunke Gene: gckr has been classified as Red List (Low Evidence).
Mendeliome v0.1227 GCKR Sebastian Lunke Publications for gene: GCKR were set to
Mendeliome v0.1226 GCKR Sebastian Lunke Added comment: Comment on mode of inheritance: Risk factor only
Mendeliome v0.1226 GCKR Sebastian Lunke Mode of inheritance for gene: GCKR was changed from Unknown to Other
Mendeliome v0.1225 GCKR Sebastian Lunke Classified gene: GCKR as Red List (low evidence)
Mendeliome v0.1225 GCKR Sebastian Lunke Gene: gckr has been classified as Red List (Low Evidence).
Mendeliome v0.1224 GCKR Sebastian Lunke reviewed gene: GCKR: Rating: RED; Mode of pathogenicity: None; Publications: 31777715; Phenotypes: ; Mode of inheritance: Other
Mendeliome v0.1224 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Mendeliome v0.1224 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1224 CNTN1 Zornitza Stark Phenotypes for gene: CNTN1 were changed from to Myopathy, congenital, Compton-North 612540
Mendeliome v0.1223 CNTN1 Zornitza Stark Publications for gene: CNTN1 were set to
Mendeliome v0.1222 CNTN1 Zornitza Stark Mode of inheritance for gene: CNTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1221 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Mendeliome v0.1221 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1220 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Mendeliome v0.1220 OPA1 Ee Ming Wong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30165240; Phenotypes: 1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963, 2. {Glaucoma, normal tension, susceptibility to} 6066573, 3. Behr syndrome 210000 AR, 4. Optic atrophy 1 165500 AD, 5. Optic atrophy plus syndrome 125250 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1220 ACTB Melanie Marty reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29220674; Phenotypes: ?Dystonia, juvenile-onset 607371, Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1220 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Mendeliome v0.1219 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Mendeliome v0.1218 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1217 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Mendeliome v0.1217 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mendeliome v0.1216 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1216 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mendeliome v0.1216 MRPS7 Zornitza Stark Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872
Mendeliome v0.1215 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to
Mendeliome v0.1214 MRPS7 Zornitza Stark Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1213 MRPS7 Zornitza Stark Classified gene: MRPS7 as Red List (low evidence)
Mendeliome v0.1213 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mendeliome v0.1212 MRPS7 Zornitza Stark reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1212 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mendeliome v0.1212 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies
Mendeliome v0.1211 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to
Mendeliome v0.1210 MRPS23 Zornitza Stark Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1209 MRPS23 Zornitza Stark Classified gene: MRPS23 as Red List (low evidence)
Mendeliome v0.1209 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mendeliome v0.1208 MRPS23 Zornitza Stark reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1208 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mendeliome v0.1208 MRPL12 Zornitza Stark Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1207 MRPL12 Zornitza Stark Publications for gene: MRPL12 were set to
Mendeliome v0.1206 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency
Mendeliome v0.1205 MRPL12 Zornitza Stark Classified gene: MRPL12 as Red List (low evidence)
Mendeliome v0.1205 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mendeliome v0.1204 MRPL12 Zornitza Stark reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1204 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1204 LYRM4 Zornitza Stark Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595
Mendeliome v0.1203 LYRM4 Zornitza Stark Publications for gene: LYRM4 were set to
Mendeliome v0.1202 LYRM4 Zornitza Stark Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1201 LYRM4 Zornitza Stark Classified gene: LYRM4 as Amber List (moderate evidence)
Mendeliome v0.1201 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1200 LYRM4 Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1200 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mendeliome v0.1200 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Mendeliome v0.1199 COX8A Zornitza Stark Publications for gene: COX8A were set to
Mendeliome v0.1198 COX8A Zornitza Stark Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1197 COX8A Zornitza Stark Classified gene: COX8A as Red List (low evidence)
Mendeliome v0.1197 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mendeliome v0.1196 COX8A Zornitza Stark reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1196 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mendeliome v0.1196 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Mendeliome v0.1195 COA5 Zornitza Stark Publications for gene: COA5 were set to
Mendeliome v0.1194 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1193 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Mendeliome v0.1193 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mendeliome v0.1192 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1192 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Mendeliome v0.1192 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM#300009; Hypophosphatemic rickets, MIM#300554; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Mendeliome v0.1191 CLCN5 Zornitza Stark Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1190 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554, Nephrolithiasis, type I, MIM#310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1190 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Mendeliome v0.1190 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Mendeliome v0.1189 PHEX Zornitza Stark Mode of inheritance for gene: PHEX 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 v0.1188 PHEX Zornitza Stark reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM#307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1188 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Mendeliome v0.1188 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Mendeliome v0.1188 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)
Mendeliome v0.1187 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Mendeliome v0.1186 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1185 EHMT1 Crystle Lee reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19264732; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1185 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1185 FIBP Zornitza Stark Publications for gene: FIBP were set to
Mendeliome v0.1184 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Mendeliome v0.1183 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1182 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Mendeliome v0.1182 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1181 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1181 CHST8 Zornitza Stark Marked gene: CHST8 as ready
Mendeliome v0.1181 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Mendeliome v0.1181 CHST8 Zornitza Stark Phenotypes for gene: CHST8 were changed from to Peeling skin syndrome
Mendeliome v0.1180 CHST8 Zornitza Stark Publications for gene: CHST8 were set to
Mendeliome v0.1179 CHST8 Zornitza Stark Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1178 CHST8 Zornitza Stark Classified gene: CHST8 as Red List (low evidence)
Mendeliome v0.1178 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Mendeliome v0.1177 CHST8 Zornitza Stark reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: 22289416, 28204496; Phenotypes: Peeling skin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1177 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1177 RASA2 Sebastian Lunke Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1176 RASA2 Sebastian Lunke Classified gene: RASA2 as Amber List (moderate evidence)
Mendeliome v0.1176 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1175 RASA2 Sebastian Lunke reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25049390, 30311384; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1175 TKFC Zornitza Stark Marked gene: TKFC as ready
Mendeliome v0.1175 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1175 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Mendeliome v0.1175 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1174 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Mendeliome v0.1172 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Mendeliome v0.1171 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1171 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Mendeliome v0.1170 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
Mendeliome v0.1169 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1168 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Mendeliome v0.1168 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1167 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11, MIM# 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1167 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Mendeliome v0.1167 EMC1 Zornitza Stark Phenotypes for gene: EMC1 were changed from to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Mendeliome v0.1166 EMC1 Zornitza Stark Publications for gene: EMC1 were set to
Mendeliome v0.1165 EMC1 Zornitza Stark Mode of inheritance for gene: EMC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1164 EMC1 Zornitza Stark reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942288, 29271071; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1164 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1164 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from to {Microvascular complications of diabetes 6} 612634
Mendeliome v0.1163 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1162 SOD2 Zornitza Stark Classified gene: SOD2 as Red List (low evidence)
Mendeliome v0.1162 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1161 SOD2 Zornitza Stark reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 6} 612634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1161 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Mendeliome v0.1161 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Mendeliome v0.1161 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Mendeliome v0.1160 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Mendeliome v0.1159 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1158 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Mendeliome v0.1158 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1158 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1158 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from to Hypertrophic cardiomyopathy
Mendeliome v0.1157 MYOM1 Zornitza Stark Publications for gene: MYOM1 were set to
Mendeliome v0.1156 MYOM1 Zornitza Stark Mode of inheritance for gene: MYOM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1155 MYOM1 Zornitza Stark Classified gene: MYOM1 as Amber List (moderate evidence)
Mendeliome v0.1155 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1154 MYOM1 Zornitza Stark reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27600940, 26656175, 21256114; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1154 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Mendeliome v0.1153 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Mendeliome v0.1152 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1151 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Mendeliome v0.1151 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Mendeliome v0.1150 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Mendeliome v0.1150 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1150 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Mendeliome v0.1149 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Mendeliome v0.1148 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1147 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1146 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Mendeliome v0.1146 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1145 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; 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: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1145 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1144 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1143 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1142 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Mendeliome v0.1141 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mendeliome v0.1141 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mendeliome v0.1140 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mendeliome v0.1139 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1138 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mendeliome v0.1138 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mendeliome v0.1137 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1137 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Mendeliome v0.1137 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1137 CNTN3 Zornitza Stark Phenotypes for gene: CNTN3 were changed from to Intellectual disability
Mendeliome v0.1136 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Mendeliome v0.1135 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1134 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Mendeliome v0.1134 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1133 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1132 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Mendeliome v0.1131 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Mendeliome v0.1130 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Mendeliome v0.1130 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1129 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1129 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1129 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Mendeliome v0.1128 LIPN Zornitza Stark Publications for gene: LIPN were set to
Mendeliome v0.1127 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1126 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Mendeliome v0.1126 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1125 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1125 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1124 SDR9C7 Zornitza Stark gene: SDR9C7 was added
gene: SDR9C7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Mendeliome v0.1123 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Mendeliome v0.1123 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Mendeliome v0.1122 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Mendeliome v0.1121 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 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 v0.1120 ACSL4 Zornitza Stark reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1120 RBBP8 Zornitza Stark Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.
Mendeliome v0.1120 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Mendeliome v0.1120 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Mendeliome v0.1119 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to 21998596
Mendeliome v0.1118 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Mendeliome v0.1117 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1116 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Mendeliome v0.1116 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM#122470
Mendeliome v0.1115 NIPBL Zornitza Stark Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1114 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Mendeliome v0.1114 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome
Mendeliome v0.1113 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to
Mendeliome v0.1112 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 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 v0.1111 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Mendeliome v0.1111 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia
Mendeliome v0.1110 FLNA Zornitza Stark Publications for gene: FLNA were set to
Mendeliome v0.1109 FLNA Zornitza Stark Mode of inheritance for gene: FLNA 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 v0.1108 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Mendeliome v0.1108 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
Mendeliome v0.1107 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1106 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Mendeliome v0.1106 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Mendeliome v0.1105 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1104 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Mendeliome v0.1104 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Mendeliome v0.1103 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 ELOVL1 Zornitza Stark reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Mendeliome v0.1102 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Mendeliome v0.1101 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1100 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Marked gene: CSTA as ready
Mendeliome v0.1098 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Mendeliome v0.1097 CSTA Zornitza Stark Publications for gene: CSTA were set to
Mendeliome v0.1096 CSTA Zornitza Stark Mode of inheritance for gene: CSTA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CSTA Zornitza Stark reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944047, 23534700, 25400170; Phenotypes: Peeling skin syndrome 4 MIM#607936, exfoliative ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Mendeliome v0.1095 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Mendeliome v0.1094 CDSN Zornitza Stark Publications for gene: CDSN were set to
Mendeliome v0.1093 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1092 CDSN Zornitza Stark reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1092 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1091 CASP14 Zornitza Stark gene: CASP14 was added
gene: CASP14 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert Review
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1090 LIPE Zornitza Stark Classified gene: LIPE as Green List (high evidence)
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Mendeliome v0.1088 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Mendeliome v0.1087 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Mendeliome v0.1086 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.1086 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Mendeliome v0.1086 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Mendeliome v0.1085 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Mendeliome v0.1084 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1083 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Mendeliome v0.1082 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Mendeliome v0.1081 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1080 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1080 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Mendeliome v0.1079 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Mendeliome v0.1078 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1077 MYT1L Zornitza Stark reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28859103; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1077 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mendeliome v0.1077 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mendeliome v0.1077 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mendeliome v0.1076 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1075 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Mendeliome v0.1075 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM#250100
Mendeliome v0.1074 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1073 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Mendeliome v0.1073 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Mendeliome v0.1073 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal to Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1072 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1071 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Mendeliome v0.1070 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1069 RBBP8 Elena Savva reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21998596; Phenotypes: Jawad syndrome, Seckel syndrome 2, Pancreatic carcinoma, somatic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 NIPBL Elena Savva reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1069 HUWE1 Elena Savva reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30797980, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, Say-Meyer syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 FLNA Elena Savva reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30089473; Phenotypes: ?FG syndrome 2, XL, Cardiac valvular dysplasia, X-linked, Congenital short bowel syndrome, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, 1, Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Terminal osseous dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 LIPE Kristin Rigbye gene: LIPE was added
gene: LIPE was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Review for gene: LIPE was set to GREEN
gene: LIPE was marked as current diagnostic
Added comment: LIPE is confirmed to be associated with partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Sources: Expert list
Mendeliome v0.1069 WDR35 Elena Savva reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 DNAH11 Elena Savva reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1068 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Mendeliome v0.1068 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Mendeliome v0.1068 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Mendeliome v0.1068 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1067 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1066 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Mendeliome v0.1065 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Mendeliome v0.1064 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1063 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Mendeliome v0.1062 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Mendeliome v0.1061 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1060 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1059 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1059 IARS Zornitza Stark Publications for gene: IARS were set to
Mendeliome v0.1058 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mendeliome v0.1058 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Mendeliome v0.1057 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mendeliome v0.1056 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1055 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 CACNA2D3 Michelle Torres reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31275518, PMID: 22542183, PMID: 23375656; Phenotypes: NA; Mode of inheritance: Unknown
Mendeliome v0.1054 SLC52A1 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 PTCH2 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 LIPT1 Elena Savva reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ARSA Elena Savva reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ACTA1 Elena Savva reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19562689, 15236405; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3, ?Myopathy, scapulohumeroperoneal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva Deleted their review
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: None
Mendeliome v0.1054 IRF2BPL Elena Savva reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1054 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Mendeliome v0.1054 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Mendeliome v0.1054 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51
Mendeliome v0.1053 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1052 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Mendeliome v0.1052 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Mendeliome v0.1051 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Mendeliome v0.1050 KMT5B Elena Savva reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1050 LONP1 Elena Savva reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1050 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Mendeliome v0.1049 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1048 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1048 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1048 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Mendeliome v0.1047 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Mendeliome v0.1046 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Mendeliome v0.1046 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1045 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1045 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Mendeliome v0.1045 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome, MIM #617450
Mendeliome v0.1044 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Mendeliome v0.1043 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1042 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome, MIM #617450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1042 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1042 EGFR Zornitza Stark Phenotypes for gene: EGFR were changed from to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Mendeliome v0.1041 EGFR Zornitza Stark Publications for gene: EGFR were set to
Mendeliome v0.1040 EGFR Zornitza Stark Mode of inheritance for gene: EGFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1039 EGFR Zornitza Stark Classified gene: EGFR as Red List (low evidence)
Mendeliome v0.1039 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1038 EGFR Zornitza Stark reviewed gene: EGFR: Rating: RED; Mode of pathogenicity: None; Publications: 24691054; Phenotypes: Inflammatory skin and bowel disease, neonatal, 2, OMIM # 616069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1038 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1038 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Mendeliome v0.1037 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic; OMIM #613090
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Mendeliome v0.1035 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Mendeliome v0.1034 CLCNKA Zornitza Stark Classified gene: CLCNKA as Amber List (moderate evidence)
Mendeliome v0.1034 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1033 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Mendeliome v0.1032 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1030 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1030 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Mendeliome v0.1030 PTCH2 Kristin Rigbye commented on gene: PTCH2
Mendeliome v0.1030 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1030 EGF Zornitza Stark Mode of inheritance for gene: EGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1029 EGF Zornitza Stark Phenotypes for gene: EGF were changed from to Hypomagnesemia 4, renal, MIM#611718
Mendeliome v0.1028 EGF Zornitza Stark Publications for gene: EGF were set to
Mendeliome v0.1027 EGF Zornitza Stark Classified gene: EGF as Red List (low evidence)
Mendeliome v0.1027 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1026 EGF Zornitza Stark reviewed gene: EGF: Rating: RED; Mode of pathogenicity: None; Publications: 17671655; Phenotypes: Hypomagnesemia 4, renal, MIM#611718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1026 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM #613090; Mode of inheritance: Other
Mendeliome v0.1026 FST Zornitza Stark Marked gene: FST as ready
Mendeliome v0.1026 FST Zornitza Stark Gene: fst has been classified as Red List (Low Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1025 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
gene: MYRF was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1024 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1023 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1023 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >3 unrelated individuals
Functional studies in zebrafish
Sources: Literature
Mendeliome v0.1022 ANAPC1 Alison Yeung Mode of inheritance for gene ANAPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1021 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1020 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 unrelated families reported
Sources: Literature
Mendeliome v0.1019 RINT1 Alison Yeung Marked gene: RINT1 as ready
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1019 RINT1 Alison Yeung Classified gene: RINT1 as Green List (high evidence)
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1018 RINT1 Alison Yeung gene: RINT1 was added
gene: RINT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 31204009
Phenotypes for gene: RINT1 were set to Recurrent acute liver failure
Review for gene: RINT1 was set to GREEN
gene: RINT1 was marked as current diagnostic
Added comment: three unrelated individuals reported
Sources: Literature
Mendeliome v0.1017 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Mendeliome v0.1017 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1016 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.1015 ASMT Zornitza Stark Marked gene: ASMT as ready
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1015 ASMT Zornitza Stark Publications for gene: ASMT were set to
Mendeliome v0.1015 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1014 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1014 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Mendeliome v0.1013 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Mendeliome v0.1012 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1010 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1010 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.1010 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Mendeliome v0.1009 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Mendeliome v0.1008 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1007 XRCC4 Crystle Lee reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25839420, 25728776; Phenotypes: Short stature, microcephaly, and endocrine dysfunction (MIM#616541); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1007 AIMP2 Zornitza Stark Gene: aimp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Gene: scrib has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Publications for gene: SCRIB were set to
Mendeliome v0.1006 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1006 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37, MIM# 615493
Mendeliome v0.1005 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Mendeliome v0.1004 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1003 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Mendeliome v0.1003 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1002 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1002 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.1002 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Marked gene: ATP6V1C2 as ready
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Gene: atp6v1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Review for gene: ATP6V1C2 was set to RED
Added comment: Single family reported, limited functional data.
Sources: Literature
Mendeliome v0.1000 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Mendeliome v0.1000 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to
Mendeliome v0.999 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Mendeliome v0.998 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.997 AGGF1 Zornitza Stark Classified gene: AGGF1 as Red List (low evidence)
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.996 AGGF1 Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.996 ANKRD11 Ain Roesley reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31191201, 31337854; Phenotypes: KBG syndrome (MIM # 148050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.996 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Mendeliome v0.995 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Mendeliome v0.994 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.993 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Mendeliome v0.993 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Mendeliome v0.992 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Further cases identified. Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.992 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.992 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.991 CTBP1 Zornitza Stark gene: CTBP1 was added
gene: CTBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
gene: CTBP1 was marked as current diagnostic
Added comment: At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.990 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.989 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Mendeliome v0.988 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.988 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.987 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Mendeliome v0.986 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Mendeliome v0.985 CCDC88C Sebastian Lunke Publications for gene: CCDC88C were set to 25062847; 30398676
Mendeliome v0.984 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.983 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Mendeliome v0.983 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Mendeliome v0.982 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079, 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.982 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Mendeliome v0.982 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Mendeliome v0.981 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID
Sources: Expert list
Mendeliome v0.980 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.980 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.979 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Mendeliome v0.978 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Mendeliome v0.977 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Mendeliome v0.977 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.976 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.976 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.975 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease
Sources: Expert Review
Mendeliome v0.974 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.974 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.973 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Mendeliome v0.972 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.972 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM# 605899
Mendeliome v0.971 STT3B Zornitza Stark Marked gene: STT3B as ready
Mendeliome v0.971 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.971 GCSH Zornitza Stark Publications for gene: GCSH were set to
Mendeliome v0.970 GCSH Zornitza Stark Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.969 GCSH Zornitza Stark Classified gene: GCSH as Red List (low evidence)
Mendeliome v0.969 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.968 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.968 STT3B Zornitza Stark Publications for gene: STT3B were set to 23842455
Mendeliome v0.967 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.966 STT3B Zornitza Stark Publications for gene: STT3B were set to
Mendeliome v0.965 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Mendeliome v0.964 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Mendeliome v0.964 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.963 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.963 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Mendeliome v0.963 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Mendeliome v0.962 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Mendeliome v0.961 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.960 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.959 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE
Sources: Expert Review
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.958 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.957 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.955 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.954 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.953 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
gene: RALA was marked as current diagnostic
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.952 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.951 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder
Sources: Expert list
Mendeliome v0.950 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Mendeliome v0.950 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.949 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 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: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene.
Sources: Expert list
Mendeliome v0.948 Zornitza Stark removed gene:LNP1 from the panel
Mendeliome v0.947 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Mendeliome v0.947 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Mendeliome v0.947 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from to Lissencephaly 6, with microcephaly, MIM# 616212
Mendeliome v0.946 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Mendeliome v0.945 KATNB1 Zornitza Stark Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.944 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.944 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Mendeliome v0.943 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Mendeliome v0.942 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.941 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Mendeliome v0.941 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.940 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.940 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.939 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.938 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Mendeliome v0.938 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Mendeliome v0.937 USB1 Zornitza Stark Publications for gene: USB1 were set to
Mendeliome v0.936 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.935 USB1 Ain Roesley reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25044170, 27612988; Phenotypes: Poikiloderma with neutropenia (OMIM #604173); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.935 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Mendeliome v0.935 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Mendeliome v0.934 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Mendeliome v0.933 GNB5 Zornitza Stark Mode of inheritance for gene: GNB5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.932 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.932 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Mendeliome v0.931 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Mendeliome v0.930 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.929 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Mendeliome v0.929 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.928 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Mendeliome v0.927 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Mendeliome v0.926 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.925 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Mendeliome v0.925 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.924 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.924 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mendeliome v0.923 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.922 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Mendeliome v0.921 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Mendeliome v0.921 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Classified gene: MAP4K4 as Red List (low evidence)
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.919 MAP4K4 Zornitza Stark reviewed gene: MAP4K4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.919 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.919 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)
Mendeliome v0.918 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.917 NAGA Zornitza Stark Publications for gene: NAGA were set to
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.916 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.915 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.915 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.914 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 RAB11B Zornitza Stark Deleted their review
Mendeliome v0.913 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.913 NAGA Ain Roesley reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281; Phenotypes: Kanzaki disease (MIM # 609242), Schindler disease, type I or III (MIM# 609241); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.913 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.912 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Mendeliome v0.911 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.911 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.910 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Mendeliome v0.909 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Mendeliome v0.908 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Mendeliome v0.908 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.907 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.907 DDOST Zornitza Stark Marked gene: DDOST as ready
Mendeliome v0.907 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.907 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.906 DDOST Zornitza Stark Publications for gene: DDOST were set to
Mendeliome v0.905 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.904 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Mendeliome v0.904 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.903 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.903 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.903 PIK3C2A Zornitza Stark Mode of inheritance for gene: PIK3C2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.902 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Mendeliome v0.902 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.901 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported.
Sources: Expert list
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.900 FGF16 Zornitza Stark Classified gene: FGF16 as Green List (high evidence)
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.899 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, MIM# 309630
Review for gene: FGF16 was set to GREEN
gene: FGF16 was marked as current diagnostic
Added comment: Sources: Expert list
Mendeliome v0.898 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.898 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.897 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.896 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Mendeliome v0.895 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Mendeliome v0.894 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Mendeliome v0.894 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.893 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.893 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.893 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Mendeliome v0.892 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Mendeliome v0.891 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.890 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Mendeliome v0.890 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.889 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.889 PTPRR Zornitza Stark Marked gene: PTPRR as ready
Mendeliome v0.889 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.889 STAT4 Zornitza Stark Marked gene: STAT4 as ready
Mendeliome v0.889 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Mendeliome v0.889 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Mendeliome v0.889 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Mendeliome v0.888 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Mendeliome v0.887 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Green List (High Evidence).
Mendeliome v0.887 HOXB6 Zornitza Stark Phenotypes for gene: HOXB6 were changed from to Hypospadias
Mendeliome v0.886 HOXB6 Zornitza Stark Publications for gene: HOXB6 were set to
Mendeliome v0.885 HOXB6 Zornitza Stark Mode of inheritance for gene: HOXB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.884 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Mendeliome v0.884 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Mendeliome v0.883 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.882 LIFR Zornitza Stark Publications for gene: LIFR were set to
Mendeliome v0.881 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.880 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Mendeliome v0.880 CACNA1B Zornitza Stark Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Mendeliome v0.879 CACNA1B Zornitza Stark Publications for gene: CACNA1B were set to
Mendeliome v0.878 CACNA1B Zornitza Stark Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.877 CACNA1B Zornitza Stark reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.876 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.875 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Mendeliome v0.874 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Mendeliome v0.874 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to
Mendeliome v0.873 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from to Intellectual disability; autism; dysmorphic features
Mendeliome v0.872 NTNG2 Zornitza Stark Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 NTNG2 Zornitza Stark reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.871 RPL13 Zornitza Stark Classified gene: RPL13 as Green List (high evidence)
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature
Mendeliome v0.869 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.869 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Mendeliome v0.868 FOXJ1 Zornitza Stark Publications for gene: FOXJ1 were set to
Mendeliome v0.867 FOXJ1 Zornitza Stark Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.866 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.866 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.865 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.864 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Mendeliome v0.864 RRAS2 Zornitza Stark Phenotypes for gene: RRAS2 were changed from to Noonan syndrome 12, OMIM #618624
Mendeliome v0.863 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Mendeliome v0.862 RRAS2 Zornitza Stark Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.861 RRAS2 Zornitza Stark reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.861 TP73 Alison Yeung Marked gene: TP73 as ready
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.861 TP73 Alison Yeung Classified gene: TP73 as Amber List (moderate evidence)
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.860 TP73 Alison Yeung gene: TP73 was added
gene: TP73 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to PMID: 31130284
Phenotypes for gene: TP73 were set to Cortical malformation; Lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.859 SMG8 Alison Yeung Classified gene: SMG8 as Amber List (moderate evidence)
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.858 SMG8 Alison Yeung gene: SMG8 was added
gene: SMG8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to PMID: 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.857 IQSEC3 Alison Yeung Classified gene: IQSEC3 as Amber List (moderate evidence)
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.856 IQSEC3 Alison Yeung gene: IQSEC3 was added
gene: IQSEC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to PMID: 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.855 ICE1 Alison Yeung Classified gene: ICE1 as Amber List (moderate evidence)
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.854 ICE1 Alison Yeung gene: ICE1 was added
gene: ICE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to PMID: 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.853 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.852 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: reported in two unrelated families
Sources: Literature
Mendeliome v0.850 Sebastian Lunke removed gene:TRIM28 from the panel
Mendeliome v0.849 Sebastian Lunke removed gene:PRKN from the panel
Mendeliome v0.848 Sebastian Lunke removed gene:DSC2 from the panel
Mendeliome v0.846 Sebastian Lunke removed gene:CHEK2 from the panel
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.845 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.844 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Three unrelated individuals reported
Sources: Literature
Mendeliome v0.843 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Mendeliome v0.843 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.842 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Mendeliome v0.841 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.840 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Mendeliome v0.840 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.839 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.839 ADCY8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Mendeliome v0.839 ADCY8 Zornitza Stark Classified gene: ADCY8 as Red List (low evidence)
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Mendeliome v0.838 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.838 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.837 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Reported in 3 unrelated individuals
Sources: Literature
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.836 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.835 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.833 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 612813
Review for gene: ACAN was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.832 NKX2-2 Zornitza Stark Classified gene: NKX2-2 as Green List (high evidence)
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.831 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943; 9584121
Phenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Review for gene: NKX2-2 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.830 GPC4 Alison Yeung reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30982611; Phenotypes: Keipert syndrome OMIM# 301026; 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 v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.830 KDM3B Alison Yeung Classified gene: KDM3B as Green List (high evidence)
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.828 LEMD2 Alison Yeung gene: LEMD2 was added
gene: LEMD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to PMID: 30905398
Phenotypes for gene: LEMD2 were set to progeroid disorder
Review for gene: LEMD2 was set to AMBER
Added comment: two reported unrelated individuals, limited functional evidence
Sources: Literature
Mendeliome v0.827 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.827 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM# 212093
Mendeliome v0.826 PLD1 Zornitza Stark Publications for gene: PLD1 were set to
Mendeliome v0.825 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.825 PLD1 Zornitza Stark Mode of inheritance for gene: PLD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.824 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Mendeliome v0.824 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.823 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Mendeliome v0.823 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.822 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.820 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Added comment: Three reported unrelated families
Sources: Literature
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.818 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Classified gene: NCAPG2 as Green List (high evidence)
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.816 NCAPG2 Zornitza Stark gene: NCAPG2 was added
gene: NCAPG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Mendeliome v0.815 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.814 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence
Sources: Literature
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.813 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.812 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.810 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.807 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31656805; 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
gene: BNC2 was marked as current diagnostic
Added comment: At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.806 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Mendeliome v0.805 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Mendeliome v0.804 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.803 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Mendeliome v0.803 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.802 SRGAP1 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.802 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.802 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to
Mendeliome v0.801 SRGAP1 Zornitza Stark Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.800 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from to CAKUT
Mendeliome v0.799 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Mendeliome v0.799 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Marked gene: TET3 as ready
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.797 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Mendeliome v0.796 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.795 Zornitza Stark Panel name changed from Mendeliome_VCGS to Mendeliome
Mendeliome v0.794 STN1 Zornitza Stark Marked gene: STN1 as ready
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.794 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.793 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Mendeliome v0.792 Anthony Marty Panel types changed to Victorian Clinical Genetics Services
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.791 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.790 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Review for gene: JAM2 was set to GREEN
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Mendeliome v0.789 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.789 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.788 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Review for gene: TDP2 was set to GREEN
Added comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.
Sources: Expert list
Mendeliome v0.787 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Classified gene: TRMT1 as Green List (high evidence)
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.786 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604; 26308914; 21937992
Phenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302
Review for gene: TRMT1 was set to GREEN
Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Sources: Expert list
Mendeliome v0.785 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Mendeliome v0.785 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.785 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Mendeliome v0.784 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.783 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Mendeliome v0.782 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Mendeliome v0.782 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.780 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Literature
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.778 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.777 ZC3H14 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.777 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Mendeliome v0.776 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to
Mendeliome v0.775 ZC3H14 Zornitza Stark Classified gene: ZC3H14 as Amber List (moderate evidence)
Mendeliome v0.775 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.773 ZFHX3 Zornitza Stark Deleted their comment
Mendeliome v0.773 KLLN Zornitza Stark Added comment: Comment when marking as ready: Epigenetic modification of the promoter linked to Cowden syndrome.
Mendeliome v0.773 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Publications for gene: KLLN were set to
Mendeliome v0.772 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Mendeliome v0.772 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.771 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.770 MDH1 Zornitza Stark Classified gene: MDH1 as Amber List (moderate evidence)
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.769 MDH1 Zornitza Stark gene: MDH1 was added
gene: MDH1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Review for gene: MDH1 was set to AMBER
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data.
Sources: Literature
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.768 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.767 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Mendeliome_VCGS. Sources: 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; abdominal distension
Review for gene: ISLR2 was set to AMBER
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.766 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.765 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic LOF and missense reported
Sources: Literature
Mendeliome v0.764 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.764 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.763 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to unknown
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
gene: NOTCH2NL was marked as current diagnostic
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.762 RFC1 Sue White Classified gene: RFC1 as Green List (high evidence)
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.761 RFC1 Sue White gene: RFC1 was added
gene: RFC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Penetrance for gene: RFC1 were set to unknown
Mode of pathogenicity for gene: RFC1 was set to Other
Review for gene: RFC1 was set to GREEN
Added comment: adult onset ataxia due to biallelic intronic STR expansion
Sources: Literature
Mendeliome v0.760 AVPR2 Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539
Mendeliome v0.759 AVPR2 Zornitza Stark Publications for gene: AVPR2 were set to
Mendeliome v0.758 AVPR2 Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.757 TRAC Zornitza Stark Marked gene: TRAC as ready
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.757 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.756 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.755 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.755 NSMCE3 Zornitza Stark Mode of inheritance for gene: NSMCE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.754 NSMCE3 Zornitza Stark Phenotypes for gene: NSMCE3 were changed from to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Mendeliome v0.753 NSMCE3 Zornitza Stark Publications for gene: NSMCE3 were set to
Mendeliome v0.752 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Mendeliome v0.752 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.751 NSMCE3 Zornitza Stark reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27427983; Phenotypes: Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.751 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.750 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 4288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Mendeliome v0.749 AVPR2 Belinda Chong reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9127330, PubMed: 15872203; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.749 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.749 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.748 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: STAG2 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: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Phenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022
Review for gene: STAG2 was set to GREEN
Added comment: 12 unrelated families reported both males and females affected.
Sources: Other
Mendeliome v0.747 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.747 IRF3 Zornitza Stark Phenotypes for gene: IRF3 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Mendeliome v0.746 IRF3 Zornitza Stark Publications for gene: IRF3 were set to
Mendeliome v0.745 IRF3 Zornitza Stark Mode of inheritance for gene: IRF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.744 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Mendeliome v0.744 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.743 IRF3 Zornitza Stark reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.743 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.742 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five families reported.
Sources: Other
Mendeliome v0.741 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Mendeliome v0.741 EHHADH Zornitza Stark Phenotypes for gene: EHHADH were changed from to Fanconi renotubular syndrome 3; OMIM#615605
Mendeliome v0.740 EHHADH Zornitza Stark Publications for gene: EHHADH were set to
Mendeliome v0.739 EHHADH Zornitza Stark Classified gene: EHHADH as Red List (low evidence)
Mendeliome v0.739 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Mendeliome v0.738 EHHADH Zornitza Stark reviewed gene: EHHADH: Rating: RED; Mode of pathogenicity: None; Publications: 24401050; Phenotypes: Fanconi renotubular syndrome 3, OMIM#615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.738 VTN Zornitza Stark Marked gene: VTN as ready
Mendeliome v0.738 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Mendeliome v0.738 VTN Zornitza Stark Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome
Mendeliome v0.737 VTN Zornitza Stark Publications for gene: VTN were set to
Mendeliome v0.736 VTN Zornitza Stark Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.735 VTN Zornitza Stark Classified gene: VTN as Red List (low evidence)
Mendeliome v0.735 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Mendeliome v0.734 VTN Zornitza Stark reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: Atypical haemolytic uraemic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.734 ANLN Zornitza Stark Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.733 ANLN Zornitza Stark Classified gene: ANLN as Amber List (moderate evidence)
Mendeliome v0.733 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.732 ANLN Zornitza Stark reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.732 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.732 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Mendeliome v0.731 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Mendeliome v0.730 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.729 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Mendeliome v0.729 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.728 ARHGAP24 Zornitza Stark reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.728 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Mendeliome v0.727 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Mendeliome v0.726 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.725 CD2AP Zornitza Stark Classified gene: CD2AP as Amber List (moderate evidence)
Mendeliome v0.725 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.724 CD2AP Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.724 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.724 ITSN1 Zornitza Stark Classified gene: ITSN1 as Green List (high evidence)
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.723 ITSN1 Zornitza Stark gene: ITSN1 was added
gene: ITSN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITSN1 were set to 29773874
Review for gene: ITSN1 was set to GREEN
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Expert list
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.722 LAMA5 Zornitza Stark Classified gene: LAMA5 as Amber List (moderate evidence)
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.720 TNS2 Zornitza Stark gene: TNS2 was added
gene: TNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNS2 were set to 29773874
Phenotypes for gene: TNS2 were set to Nephrotic syndrome
Review for gene: TNS2 was set to GREEN
Added comment: Five families reported in this paper reporting multiple new SRNS genes.
Sources: Expert list
Mendeliome v0.719 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Mendeliome v0.719 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.718 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.717 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.716 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.715 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHM were set to 12370281; 8890099
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM# 601495
Review for gene: IGHM was set to GREEN
Added comment: Multiple families reported; please note a 40kb deletion as well as SNVs.
Sources: Expert list
Mendeliome v0.714 ANGPTL6 Zornitza Stark Marked gene: ANGPTL6 as ready
Mendeliome v0.714 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.714 ANGPTL6 Zornitza Stark Phenotypes for gene: ANGPTL6 were changed from to Cerebral aneurysm
Mendeliome v0.713 ANGPTL6 Zornitza Stark Publications for gene: ANGPTL6 were set to
Mendeliome v0.712 ANGPTL6 Zornitza Stark Mode of inheritance for gene: ANGPTL6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.711 ANGPTL6 Zornitza Stark Classified gene: ANGPTL6 as Red List (low evidence)
Mendeliome v0.711 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.710 ANGPTL6 Zornitza Stark reviewed gene: ANGPTL6: Rating: RED; Mode of pathogenicity: None; Publications: 29304371; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.710 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Mendeliome v0.710 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.709 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.708 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Mendeliome v0.708 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v0.707 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to unknown
Review for gene: ATP2B2 was set to GREEN
gene: ATP2B2 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.706 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.705 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous variants cause dyskeratosis congenita
Sources: Literature
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.704 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.703 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Mendeliome v0.702 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Mendeliome v0.702 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.701 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Mendeliome v0.701 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Mendeliome v0.701 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Mendeliome v0.700 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Mendeliome v0.699 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.698 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Mendeliome v0.698 RHOA Sue White Classified gene: RHOA as Green List (high evidence)
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Mendeliome v0.697 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous missense variants cause linear hypopigmentation, brain MRI changes with normal cognition, ocular and acral changes
Sources: Literature
Mendeliome v0.696 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Mendeliome v0.696 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Mendeliome v0.696 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Mendeliome v0.695 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Mendeliome v0.694 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.693 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.693 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Mendeliome v0.693 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Mendeliome v0.693 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from to Amyotrophy, hereditary neuralgic, MIM# 162100
Mendeliome v0.692 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: None
Mendeliome v0.692 PUS10 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence for Mendelian gene-disease association.
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.692 PUS10 Zornitza Stark Classified gene: PUS10 as Red List (low evidence)
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.691 PUS10 Crystle Lee reviewed gene: PUS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.691 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Mendeliome v0.691 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Mendeliome v0.691 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.690 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.689 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.688 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Mendeliome v0.687 DNMT3A Zornitza Stark Mode of pathogenicity for gene: DNMT3A was changed from to Other
Mendeliome v0.686 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.685 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: Tatton-Brown-Rahman SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.685 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.685 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.684 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilm's tumour
Review for gene: TRIM28 was set to GREEN
Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development.
Sources: Literature
Mendeliome v0.683 YY1AP1 Zornitza Stark Gene: yy1ap1 has been classified as Green List (High Evidence).
Mendeliome v0.683 YY1AP1 Zornitza Stark Phenotypes for gene: YY1AP1 were changed from to Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries
Mendeliome v0.682 YY1AP1 Zornitza Stark Mode of inheritance for gene: YY1AP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 YY1AP1 Zornitza Stark reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531, stenosis/occlusion of multiple arteries; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 CBWD1 Zornitza Stark Gene: cbwd1 has been classified as Red List (Low Evidence).
Mendeliome v0.681 CBWD1 Zornitza Stark gene: CBWD1 was added
gene: CBWD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Review for gene: CBWD1 was set to RED
Added comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.680 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.679 DEF6 Zornitza Stark gene: DEF6 was added
gene: DEF6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEF6 were set to 31308374
Phenotypes for gene: DEF6 were set to Systemic autoimmunity
Review for gene: DEF6 was set to AMBER
Added comment: Three individuals from two families, some functional data.
Sources: Literature
Mendeliome v0.678 SLC2A8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Mendeliome v0.678 SLC2A8 Zornitza Stark Classified gene: SLC2A8 as Red List (low evidence)
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Mendeliome v0.677 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Mendeliome v0.677 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Mendeliome v0.677 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Mendeliome v0.677 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Mendeliome v0.676 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Mendeliome v0.675 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.674 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Mendeliome v0.674 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Mendeliome v0.674 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from to Visceral myopathy, MIM#155310
Mendeliome v0.673 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.672 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.672 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.671 C19orf70 Zornitza Stark gene: C19orf70 was added
gene: C19orf70 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27623147; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM# 618329
Review for gene: C19orf70 was set to GREEN
Added comment: Three unrelated families reported. HGNC approved name MICOS13.
Sources: Expert list
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.670 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.669 MIPEP Zornitza Stark gene: MIPEP was added
gene: MIPEP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM# 617228
Review for gene: MIPEP was set to GREEN
Added comment: Four unrelated children reported.
Sources: Expert list
Mendeliome v0.668 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM# 618378
Review for gene: MRPS14 was set to RED
Added comment: Single individual reported, functional data.
Sources: Expert list
Mendeliome v0.667 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Red List (Low Evidence).
Mendeliome v0.667 PLEKHG2 Zornitza Stark gene: PLEKHG2 was added
gene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763
Review for gene: PLEKHG2 was set to RED
Added comment: Five individuals from two unrelated families reported, same homozygous missense variant.
Sources: Expert list
Mendeliome v0.666 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Mendeliome v0.666 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Mendeliome v0.665 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Mendeliome v0.664 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.663 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.663 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Mendeliome v0.663 HIKESHI Zornitza Stark Phenotypes for gene: HIKESHI were changed from to Leukodystrophy, hypomyelinating, 13, MIM# 616881
Mendeliome v0.662 HIKESHI Zornitza Stark Publications for gene: HIKESHI were set to
Mendeliome v0.661 HIKESHI Zornitza Stark Mode of inheritance for gene: HIKESHI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.660 HIKESHI Zornitza Stark reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: None; Publications: 26545878; Phenotypes: Leukodystrophy, hypomyelinating, 13, MIM# 616881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.660 AIMP2 Zornitza Stark gene: AIMP2 was added
gene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination
Sources: Expert list
Mendeliome v0.659 TMEM63A Zornitza Stark Marked gene: TMEM63A as ready
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.659 TMEM63A Zornitza Stark Classified gene: TMEM63A as Green List (high evidence)
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.658 TMEM63A Zornitza Stark gene: TMEM63A was added
gene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Review for gene: TMEM63A was set to GREEN
Added comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth.
Sources: Expert list
Mendeliome v0.657 EPRS Zornitza Stark Phenotypes for gene: EPRS were changed from to Leukodystrophy, hypomyelinating, 15, MIM# 617951
Mendeliome v0.656 EPRS Zornitza Stark Publications for gene: EPRS were set to
Mendeliome v0.655 EPRS Zornitza Stark Mode of inheritance for gene: EPRS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.654 EPRS Zornitza Stark reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576217; Phenotypes: Leukodystrophy, hypomyelinating, 15, MIM# 617951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.654 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.653 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.653 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Mendeliome v0.653 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.651 H3F3A Zornitza Stark commented on gene: H3F3A
Mendeliome v0.651 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Mendeliome v0.651 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.651 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.649 ROBO4 Zornitza Stark gene: ROBO4 was added
gene: ROBO4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation
Review for gene: ROBO4 was set to GREEN
Added comment: Two families, functional data, incomplete penetrance.
Sources: Literature
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.648 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.647 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome; OMIM #254940
Review for gene: MYMK was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.646 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Mendeliome v0.645 PUS3 Zornitza Stark reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.645 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.644 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Mendeliome v0.643 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.643 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Mendeliome v0.642 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Mendeliome v0.641 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.640 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Mendeliome v0.640 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.638 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 28640246; 29522154
Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Review for gene: RSRC1 was set to AMBER
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Mendeliome v0.637 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.637 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.636 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Mendeliome v0.635 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Mendeliome v0.635 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.634 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.633 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984
Review for gene: USP27X was set to AMBER
Added comment: Four individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.632 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.631 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.630 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.629 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Mendeliome v0.628 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Mendeliome v0.628 RPIA Zornitza Stark Phenotypes for gene: RPIA were changed from to Ribose 5-phosphate isomerase deficiency, MIM# 608611
Mendeliome v0.627 RPIA Zornitza Stark Publications for gene: RPIA were set to
Mendeliome v0.626 RPIA Zornitza Stark Mode of inheritance for gene: RPIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.625 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.625 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.624 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Mendeliome v0.623 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Mendeliome v0.623 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from to Epilepsy; intellectual disability
Mendeliome v0.622 NUS1 Zornitza Stark Publications for gene: NUS1 were set to
Mendeliome v0.621 NUS1 Zornitza Stark Mode of inheritance for gene: NUS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.620 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.619 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Mendeliome v0.618 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019 (PMID:31664034, who identified an alternative cause in the original families.
Mendeliome v0.618 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Mendeliome v0.618 ADRA2B Zornitza Stark Publications for gene: ADRA2B were set to
Mendeliome v0.617 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Mendeliome v0.617 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability
Mendeliome v0.615 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.615 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from to Intellectual disability; epilepsy; structural brain malformations
Mendeliome v0.614 AGO3 Zornitza Stark Publications for gene: AGO3 were set to
Mendeliome v0.613 AGO3 Zornitza Stark Mode of inheritance for gene: AGO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.612 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Mendeliome v0.612 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.610 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, MIM# 617599
Review for gene: PIGP was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.609 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.608 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Mendeliome v0.607 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.607 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.606 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list
Mendeliome v0.605 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.605 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285, 23559409
Mendeliome v0.604 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.603 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Mendeliome v0.602 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Mendeliome v0.601 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Mendeliome v0.601 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.600 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.600 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Mendeliome v0.600 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.600 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM# 617927
Mendeliome v0.599 IFT57 Zornitza Stark Publications for gene: IFT57 were set to
Mendeliome v0.598 IFT57 Zornitza Stark Mode of inheritance for gene: IFT57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.597 IFT57 Zornitza Stark Classified gene: IFT57 as Red List (low evidence)
Mendeliome v0.597 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.596 IFT57 Zornitza Stark reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: 27060890; Phenotypes: Orofaciodigital syndrome XVIII, MIM# 617927; Mode of inheritance: None
Mendeliome v0.596 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.596 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.595 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.594 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Mendeliome v0.594 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Three families with skeletal dysplasia, one with nephronophthisis, one with eye phenotype.
Mendeliome v0.594 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.594 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Mendeliome v0.593 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Mendeliome v0.592 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.591 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Mendeliome v0.591 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.590 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Mendeliome v0.589 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Mendeliome v0.589 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.588 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified in the literature.
Mendeliome v0.588 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Mendeliome v0.587 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.586 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Mendeliome v0.586 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.585 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.584 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Mendeliome v0.583 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.582 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Mendeliome v0.582 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.581 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.581 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.581 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis
Mendeliome v0.580 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Mendeliome v0.579 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.578 SLC41A1 Zornitza Stark Classified gene: SLC41A1 as Red List (low evidence)
Mendeliome v0.578 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.577 SLC41A1 Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.577 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.577 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Mendeliome v0.576 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Mendeliome v0.575 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.574 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mendeliome v0.574 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.573 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.573 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Mendeliome v0.573 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Mendeliome v0.572 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Mendeliome v0.571 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.570 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Mendeliome v0.570 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Mendeliome v0.569 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.569 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.568 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77, MIM# 618548
Review for gene: PIGQ was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.567 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Mendeliome v0.567 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Mendeliome v0.567 NTRK2 Zornitza Stark Phenotypes for gene: NTRK2 were changed from to Epileptic encephalopathy, early infantile, 58, MIM# 617830; Obesity, hyperphagia, and developmental delay, MIM# 613886
Mendeliome v0.567 NTRK2 Zornitza Stark Publications for gene: NTRK2 were set to
Mendeliome v0.566 NTRK2 Zornitza Stark Mode of inheritance for gene: NTRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.565 NTRK2 Zornitza Stark reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 15494731, 27884935, 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 58, MIM# 617830, Obesity, hyperphagia, and developmental delay, MIM# 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.565 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Mendeliome v0.564 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.564 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.563 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.562 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.561 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153
Review for gene: GABRB1 was set to GREEN
Added comment: Three individuals reported, two as part of large epilepsy cohorts.
Sources: Expert list
Mendeliome v0.560 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Mendeliome v0.560 GABRA2 Zornitza Stark Phenotypes for gene: GABRA2 were changed from to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Mendeliome v0.559 GABRA2 Zornitza Stark Publications for gene: GABRA2 were set to
Mendeliome v0.558 GABRA2 Zornitza Stark Mode of inheritance for gene: GABRA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.557 GABRA2 Zornitza Stark reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29422393; Phenotypes: Epileptic encephalopathy, early infantile, 78, MIM# 618557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.557 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Mendeliome v0.557 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.556 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.555 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.554 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.553 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.552 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.551 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854; 30970188
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to GREEN
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).

Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert list
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.550 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.549 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Mendeliome v0.548 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mendeliome v0.548 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mendeliome v0.547 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mendeliome v0.546 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.545 PARS2 Zornitza Stark reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.545 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Mendeliome v0.545 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from to CAKUT; dysautonomia
Mendeliome v0.544 CHRNA3 Zornitza Stark Publications for gene: CHRNA3 were set to
Mendeliome v0.543 CHRNA3 Zornitza Stark Mode of inheritance for gene: CHRNA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.542 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: CAKUT, dysautonomia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.542 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.541 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Mendeliome_VCGS. Sources: Literature
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: Literature
Mendeliome v0.540 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Mendeliome v0.540 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Mendeliome v0.540 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Mendeliome v0.539 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Mendeliome v0.538 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.537 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.536 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mendeliome v0.535 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.535 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.534 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Review for gene: SPATC1L was set to AMBER
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.533 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.532 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Mendeliome v0.531 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.531 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.530 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Mendeliome v0.529 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Mendeliome v0.529 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.528 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.527 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.526 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.525 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family with affected sibs, mouse model.
Sources: Expert list
Mendeliome v0.524 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.524 SLC26A5 Zornitza Stark Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865
Mendeliome v0.523 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to
Mendeliome v0.522 SLC26A5 Zornitza Stark Mode of inheritance for gene: SLC26A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.521 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Red List (low evidence)
Mendeliome v0.521 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.520 SLC26A5 Zornitza Stark reviewed gene: SLC26A5: Rating: RED; Mode of pathogenicity: None; Publications: 24164807; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.520 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.519 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.518 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.517 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, sibs with homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.516 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.515 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Mendeliome v0.514 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Mendeliome v0.514 PROC Zornitza Stark Publications for gene: PROC were set to
Mendeliome v0.514 PROC Zornitza Stark Phenotypes for gene: PROC were changed from to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Mendeliome v0.513 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.512 PROC Chris Richmond reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22545135, 30925296; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.511 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Mendeliome v0.510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.508 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.507 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.506 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.506 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Mendeliome v0.505 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Mendeliome v0.504 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.503 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Mendeliome v0.503 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.502 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.501 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Mendeliome v0.500 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Mendeliome v0.499 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Mendeliome v0.499 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.498 BDP1 Zornitza Stark reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Deafness, autosomal recessive 112, MIM#618257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.498 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Mendeliome v0.497 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.496 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Mendeliome v0.495 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Mendeliome v0.495 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.494 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.494 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.494 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Mendeliome v0.493 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Mendeliome v0.492 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.491 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Mendeliome v0.491 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIABLO Zornitza Stark reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: None; Publications: 21722859, 10929711; Phenotypes: Deafness, autosomal dominant 64, MIM# 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.490 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Mendeliome v0.489 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.488 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Mendeliome v0.487 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Mendeliome v0.487 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.486 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.485 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.484 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Mendeliome v0.483 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Mendeliome v0.482 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.481 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Mendeliome v0.481 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.480 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.480 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.479 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.478 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.478 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Mendeliome v0.477 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Mendeliome v0.476 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Mendeliome v0.476 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.475 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
Mendeliome v0.474 HARS Zornitza Stark Publications for gene: HARS were set to
Mendeliome v0.474 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 HARS Zornitza Stark reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 KITLG Zornitza Stark Marked gene: KITLG as ready
Mendeliome v0.473 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.473 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.472 KITLG Zornitza Stark Publications for gene: KITLG were set to
Mendeliome v0.471 KITLG Zornitza Stark Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Mendeliome v0.470 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Mendeliome v0.470 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.469 KITLG Zornitza Stark reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522471; Phenotypes: Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.469 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Deafness, autosomal dominant 50, MIM# 613074
Mendeliome v0.468 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Mendeliome v0.467 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.466 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Mendeliome v0.466 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 MIR96 Zornitza Stark reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Deafness, autosomal dominant 50, MIM# 613074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.465 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Mendeliome v0.464 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Mendeliome v0.463 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.462 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Mendeliome v0.462 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.460 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Mendeliome v0.459 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.459 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anemia
Mendeliome v0.458 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Mendeliome v0.457 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.456 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Mendeliome v0.456 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.455 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.455 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Mendeliome v0.455 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.455 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Mendeliome v0.454 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Mendeliome v0.453 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.452 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Mendeliome v0.452 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.451 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Mendeliome v0.450 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.449 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Mendeliome v0.449 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.448 CACNB4 Zornitza Stark Added comment: Comment on phenotypes: One family with episodic ataxia; susceptibility locus for different types of epilepsy.
Mendeliome v0.448 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Episodic ataxia, type 5, MIM#613855
Mendeliome v0.447 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.447 CAPN1 Zornitza Stark Gene: capn1 has been classified as Green List (High Evidence).
Mendeliome v0.447 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from to Spastic paraplegia 76, autosomal recessive, MIM#616907
Mendeliome v0.446 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to
Mendeliome v0.445 CAPN1 Zornitza Stark Mode of inheritance for gene: CAPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CAPN1 Zornitza Stark reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400; Phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.444 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Mendeliome v0.443 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Mendeliome v0.442 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Mendeliome v0.442 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.441 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.441 COA7 Zornitza Stark Classified gene: COA7 as Green List (high evidence)
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.440 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert list
Mendeliome v0.439 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.438 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.438 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Mendeliome v0.437 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Mendeliome v0.436 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.435 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Mendeliome v0.435 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.434 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.434 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.434 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mendeliome v0.433 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.432 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
Mendeliome v0.431 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Mendeliome v0.431 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.430 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.430 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.430 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Mendeliome v0.429 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Mendeliome v0.428 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.427 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Mendeliome v0.427 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.426 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.426 FAT2 Zornitza Stark Marked gene: FAT2 as ready
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.426 FAT2 Zornitza Stark Classified gene: FAT2 as Amber List (moderate evidence)
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.425 FAT2 Zornitza Stark gene: FAT2 was added
gene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769
Review for gene: FAT2 was set to AMBER
Added comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert list
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.424 GDAP2 Zornitza Stark Classified gene: GDAP2 as Green List (high evidence)
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.423 GDAP2 Zornitza Stark gene: GDAP2 was added
gene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP2 were set to 30084953
Phenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369
Review for gene: GDAP2 was set to GREEN
Added comment: Two families and animal model.
Sources: Expert list
Mendeliome v0.422 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Mendeliome v0.422 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.421 MN1 Zornitza Stark Publications for gene: MN1 were set to
Mendeliome v0.420 MN1 Zornitza Stark Mode of pathogenicity for gene: MN1 was changed from to Other
Mendeliome v0.419 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.418 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.417 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.416 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.415 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.414 INSRR Zornitza Stark Classified gene: INSRR as Red List (low evidence)
Mendeliome v0.414 INSRR Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.413 INSRR Lauren Akesson reviewed gene: INSRR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.413 GRIK5 Zornitza Stark Classified gene: GRIK5 as Red List (low evidence)
Mendeliome v0.413 GRIK5 Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.412 GRIK5 Crystle Lee reviewed gene: GRIK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.412 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Mendeliome v0.412 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Mendeliome v0.411 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Mendeliome v0.410 MPST Zornitza Stark Marked gene: MPST as ready
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.410 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.409 MPST Belinda Chong reviewed gene: MPST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.409 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B 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 v0.408 TBC1D8B Zornitza Stark reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.407 TRIM24 Zornitza Stark Marked gene: TRIM24 as ready
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.407 TRIM24 Zornitza Stark Classified gene: TRIM24 as Red List (low evidence)
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.406 TRIM24 Belinda Chong reviewed gene: TRIM24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Classified gene: ARID5B as Red List (low evidence)
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.405 ARID5B Belinda Chong reviewed gene: ARID5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.405 MLX Zornitza Stark Classified gene: MLX as Red List (low evidence)
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.404 MLX Belinda Chong reviewed gene: MLX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.404 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Mendeliome v0.404 REV3L Zornitza Stark Phenotypes for gene: REV3L were changed from to Moebius syndrome
Mendeliome v0.403 REV3L Zornitza Stark Publications for gene: REV3L were set to
Mendeliome v0.402 REV3L Zornitza Stark Mode of inheritance for gene: REV3L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 REV3L Belinda Chong reviewed gene: REV3L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26068067, 26068067; Phenotypes: Moebius syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.401 SELP Zornitza Stark Classified gene: SELP as Red List (low evidence)
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.400 SELP Belinda Chong reviewed gene: SELP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.399 FLG2 Zornitza Stark gene: FLG2 was added
gene: FLG2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported.
Sources: Literature
Mendeliome v0.398 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence).
Mendeliome v0.398 NLRP2 Zornitza Stark Phenotypes for gene: NLRP2 were changed from to female infertility; early embryonic arrest
Mendeliome v0.397 NLRP2 Zornitza Stark Publications for gene: NLRP2 were set to
Mendeliome v0.396 NLRP2 Zornitza Stark Mode of inheritance for gene: NLRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 NLRP2 Belinda Chong reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30877238; Phenotypes: female infertility, early embryonic arrest; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Mendeliome v0.395 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.395 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Mendeliome v0.394 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Mendeliome v0.393 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.392 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Mendeliome v0.392 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.391 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.391 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Mendeliome v0.391 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Mendeliome v0.390 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Mendeliome v0.389 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.388 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported with nephrotic syndrome.
Sources: Literature
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.387 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.386 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Mendeliome v0.385 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Mendeliome v0.385 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.384 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.383 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Mendeliome v0.382 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.382 XPO5 Zornitza Stark Phenotypes for gene: XPO5 were changed from to Nephrotic syndrome
Mendeliome v0.381 XPO5 Zornitza Stark Publications for gene: XPO5 were set to
Mendeliome v0.380 XPO5 Zornitza Stark Mode of inheritance for gene: XPO5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.379 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Mendeliome v0.379 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.378 XPO5 Zornitza Stark reviewed gene: XPO5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.378 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.378 NUP205 Zornitza Stark Phenotypes for gene: NUP205 were changed from to Nephrotic syndrome, type 13, MIM#616893
Mendeliome v0.377 NUP205 Zornitza Stark Publications for gene: NUP205 were set to
Mendeliome v0.376 NUP205 Zornitza Stark Mode of inheritance for gene: NUP205 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.375 NUP205 Zornitza Stark Classified gene: NUP205 as Red List (low evidence)
Mendeliome v0.375 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.374 NUP205 Zornitza Stark reviewed gene: NUP205: Rating: RED; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome, type 13, MIM#616893; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.374 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Mendeliome v0.374 KANK1 Zornitza Stark Added comment: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.
Mendeliome v0.374 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.372 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Phenotypes for gene: KANK4 were set to Nephrotic syndrome
Review for gene: KANK4 was set to AMBER
Added comment: Two individuals from a single family reported; gene belongs to a family implicated in nephrotic syndrome.
Sources: Expert list
Mendeliome v0.371 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.371 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.370 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Review for gene: KCNT2 was set to GREEN
Added comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.369 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.368 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Mendeliome v0.367 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.367 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.366 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Mendeliome v0.365 FST Zornitza Stark gene: FST was added
gene: FST was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to 31215115
Phenotypes for gene: FST were set to Cleft lip and palate
Review for gene: FST was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.364 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.363 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115
Phenotypes for gene: GDF11 were set to Cleft lip and palate
Review for gene: GDF11 was set to AMBER
Added comment: Cleft lip and palate, and rib and vertebral hypersegmentation in a single family. Mouse model.
Sources: Literature
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.362 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.361 PRDM13 Zornitza Stark gene: PRDM13 was added
gene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM13 were set to 30710461
Phenotypes for gene: PRDM13 were set to Retinal dystrophy
Mode of pathogenicity for gene: PRDM13 was set to Other
Review for gene: PRDM13 was set to GREEN
Added comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene.
Sources: Literature
Mendeliome v0.360 MICB Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.360 MICB Zornitza Stark Classified gene: MICB as Red List (low evidence)
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.359 MICB Sebastian Lunke changed review comment from: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.; to: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.

https://ghr.nlm.nih.gov/gene/MICB#resources
Mendeliome v0.359 MICB Sebastian Lunke reviewed gene: MICB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.359 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.359 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.359 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Mendeliome v0.358 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Mendeliome v0.358 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.357 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.357 TTLL10 Zornitza Stark Marked gene: TTLL10 as ready
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.357 TTLL10 Zornitza Stark Classified gene: TTLL10 as Red List (low evidence)
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.356 TTLL10 Zornitza Stark reviewed gene: TTLL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.356 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from to Intellectual disability
Mendeliome v0.355 ZFHX3 Zornitza Stark Mode of inheritance for gene: ZFHX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.354 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.354 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Mendeliome v0.354 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Intellectual disability; Autism
Mendeliome v0.353 USP7 Zornitza Stark Publications for gene: USP7 were set to
Mendeliome v0.352 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.351 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679821; Phenotypes: Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.351 KLHL24 Tiong Tan Gene: klhl24 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.349 KLHL24 Tiong Tan Publications for gene: KLHL24 were set to
Mendeliome v0.348 KLHL24 Tiong Tan Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.347 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.346 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.345 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.344 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Mendeliome v0.343 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Mendeliome v0.343 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Mendeliome v0.342 DST Zornitza Stark Marked gene: DST as ready
Mendeliome v0.342 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Mendeliome v0.342 DST Zornitza Stark Phenotypes for gene: DST were changed from to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
Mendeliome v0.341 DST Zornitza Stark Publications for gene: DST were set to
Mendeliome v0.340 DST Zornitza Stark Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.339 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.338 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 30620338; 30620337
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: 20 individuals from 14 unrelated families.
Sources: Literature
Mendeliome v0.337 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Mendeliome v0.337 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.336 ZNF292 Zornitza Stark Classified gene: ZNF292 as Green List (high evidence)
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.335 ZNF292 Zornitza Stark gene: ZNF292 was added
gene: ZNF292 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to 31723249
Phenotypes for gene: ZNF292 were set to Intellectual disability; Autism; ADHD
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Green List (high evidence)
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.333 ZMIZ1 Zornitza Stark gene: ZMIZ1 was added
gene: ZMIZ1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 19 unrelated individuals with heterozygous variants in this gene reported.
Sources: Literature
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.332 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.331 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Intellectual disability; Autism
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Mendeliome v0.330 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Mendeliome v0.330 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Mendeliome v0.330 TENM3 Zornitza Stark Phenotypes for gene: TENM3 were changed from to Microphthalmia, syndromic 15, MIM#615145; coloboma
Mendeliome v0.329 TENM3 Zornitza Stark Publications for gene: TENM3 were set to
Mendeliome v0.328 TENM3 Zornitza Stark Mode of inheritance for gene: TENM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.327 TENM3 Zornitza Stark reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30513139, 22766609, 27103084, 29753094; Phenotypes: Microphthalmia, syndromic 15, MIM#615145, coloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.327 TARS Zornitza Stark Marked gene: TARS as ready
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.327 TARS Zornitza Stark Classified gene: TARS as Amber List (moderate evidence)
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.326 TARS Zornitza Stark gene: TARS was added
gene: TARS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Mendeliome v0.325 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Classified gene: TANC2 as Green List (high evidence)
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.324 TANC2 Zornitza Stark gene: TANC2 was added
gene: TANC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to Intellectual disability; autism; epilepsy; dysmorphism
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.323 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.322 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.321 SOX4 Zornitza Stark Classified gene: SOX4 as Green List (high evidence)
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.320 SOX4 Zornitza Stark gene: SOX4 was added
gene: SOX4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.319 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Mendeliome v0.319 SNRPE Zornitza Stark Phenotypes for gene: SNRPE were changed from to Hypotrichosis 11; OMIM #615059
Mendeliome v0.318 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Mendeliome v0.317 SNRPE Zornitza Stark Mode of inheritance for gene: SNRPE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.316 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31671093, 23246290; Phenotypes: Hypotrichosis 11, OMIM #615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.316 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.315 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual disability; retinitis pigmentosa
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene.
Sources: Literature
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.314 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.313 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Mode of pathogenicity for gene: SCAMP5 was set to Other
Review for gene: SCAMP5 was set to GREEN
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.312 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.311 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.310 POU3F3 Zornitza Stark Classified gene: POU3F3 as Green List (high evidence)
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.309 POU3F3 Zornitza Stark gene: POU3F3 was added
gene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 24550763; 31303265
Phenotypes for gene: POU3F3 were set to Intellectual disability
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Mendeliome v0.308 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mendeliome v0.308 PISD Zornitza Stark Deleted their comment
Mendeliome v0.308 PISD Zornitza Stark commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Mendeliome v0.308 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PIGU Zornitza Stark reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.308 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.307 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.306 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.305 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.304 PHF21A Zornitza Stark Classified gene: PHF21A as Green List (high evidence)
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.303 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.302 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.301 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.300 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.299 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Mendeliome v0.298 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.298 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.297 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Mendeliome v0.296 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Mendeliome v0.296 NLGN1 Zornitza Stark gene: NLGN1 was added
gene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to 30460678
Phenotypes for gene: NLGN1 were set to intellectual disability; autism
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.295 NFASC Zornitza Stark Classified gene: NFASC as Green List (high evidence)
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.294 NFASC Zornitza Stark gene: NFASC was added
gene: NFASC was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Mendeliome v0.293 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.293 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Mendeliome v0.292 NCAPD2 Zornitza Stark Publications for gene: NCAPD2 were set to
Mendeliome v0.291 NCAPD2 Zornitza Stark Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark gene: MEPCE was added
gene: MEPCE was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to 31467394
Phenotypes for gene: MEPCE were set to Intellectual disability; seizures
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Mendeliome v0.289 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.289 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.288 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.287 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Mendeliome v0.287 MACROD2 Zornitza Stark gene: MACROD2 was added
gene: MACROD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to 31055587
Phenotypes for gene: MACROD2 were set to intellectual disability; dysmorphic features; microcephaly
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.286 LSS Zornitza Stark Classified gene: LSS as Green List (high evidence)
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.285 LSS Zornitza Stark gene: LSS was added
gene: LSS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Mendeliome v0.284 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Mendeliome v0.284 LSM1 Zornitza Stark gene: LSM1 was added
gene: LSM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to 31010896
Phenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.283 LMAN2L Zornitza Stark Classified gene: LMAN2L as Amber List (moderate evidence)
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.282 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Mendeliome v0.281 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.280 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.279 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.278 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Mendeliome v0.278 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.278 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Mendeliome v0.277 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of pathogenicity for gene: ADGRG6 was changed from to None
Mendeliome v0.276 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.275 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Mendeliome v0.275 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.273 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.272 FRY Zornitza Stark Classified gene: FRY as Amber List (moderate evidence)
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.271 FRY Zornitza Stark gene: FRY was added
gene: FRY was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to Intellectual disability
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.270 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.269 FBXL3 Zornitza Stark gene: FBXL3 was added
gene: FBXL3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to GREEN
Added comment: Three unrelated families, multiple affected individuals.
Sources: Literature
Mendeliome v0.268 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Mendeliome v0.268 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Mendeliome v0.267 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Mendeliome v0.267 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.266 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.265 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.264 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.263 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Mendeliome v0.262 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Mendeliome v0.262 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Mendeliome v0.262 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Mendeliome v0.261 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Mendeliome v0.261 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Mendeliome v0.260 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Mendeliome v0.260 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Mendeliome v0.259 DLL1 Zornitza Stark Publications for gene: DLL1 were set to
Mendeliome v0.258 DLL1 Zornitza Stark Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.257 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.256 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Mendeliome v0.255 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Mendeliome v0.255 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Mendeliome v0.254 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Mendeliome v0.253 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.252 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.252 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.251 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Mendeliome v0.250 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Mendeliome v0.250 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Mendeliome v0.250 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Mendeliome v0.249 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Mendeliome v0.249 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.248 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.247 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Mendeliome_VCGS. 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
Mendeliome v0.246 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.246 RNF113A Zornitza Stark Phenotypes for gene: RNF113A were changed from to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Mendeliome v0.245 RNF113A Zornitza Stark Publications for gene: RNF113A were set to
Mendeliome v0.244 RNF113A Zornitza Stark Mode of inheritance for gene: RNF113A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.243 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Mendeliome v0.243 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.242 RNF113A Zornitza Stark reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25612912, 31793730; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.242 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.241 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.240 SEMA5A Zornitza Stark Classified gene: SEMA5A as Amber List (moderate evidence)
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.239 SEMA5A Zornitza Stark gene: SEMA5A was added
gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to 26395558
Phenotypes for gene: SEMA5A were set to Intellectual disability; autism
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies
Sources: Literature
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.238 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.237 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.236 SMARCD1 Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence)
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.235 SMARCD1 Zornitza Stark gene: SMARCD1 was added
gene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet.
Sources: Literature
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.232 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.231 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 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: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.230 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.229 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Mendeliome v0.228 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Mendeliome v0.228 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Mendeliome v0.228 ATN1 Zornitza Stark Phenotypes for gene: ATN1 were changed from to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Mendeliome v0.227 ATN1 Zornitza Stark Publications for gene: ATN1 were set to
Mendeliome v0.226 ATN1 Zornitza Stark Mode of inheritance for gene: ATN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.225 ATN1 Zornitza Stark reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827498; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.225 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.224 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.223 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.222 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Mendeliome v0.221 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.221 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.220 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Over 10 unrelated individuals reported in the literature.
Sources: Literature
Mendeliome v0.219 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.219 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Mendeliome v0.218 SELENOI Zornitza Stark Publications for gene: SELENOI were set to
Mendeliome v0.218 SELENOI Zornitza Stark Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.217 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Mendeliome v0.217 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.216 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.216 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.215 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Literature
Mendeliome v0.214 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.214 PHC1 Zornitza Stark Publications for gene: PHC1 were set to
Mendeliome v0.213 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Mendeliome v0.212 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.211 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Mendeliome v0.211 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.210 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.210 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Mendeliome v0.210 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Mendeliome v0.210 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome
Mendeliome v0.209 TBX4 Zornitza Stark Publications for gene: TBX4 were set to
Mendeliome v0.208 TBX4 Zornitza Stark Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.207 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.206 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Mendeliome v0.205 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Mendeliome v0.205 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Mendeliome v0.205 TMX2 Zornitza Stark Phenotypes for gene: TMX2 were changed from to Microcephaly; ID; brain malformations
Mendeliome v0.204 TMX2 Zornitza Stark Publications for gene: TMX2 were set to
Mendeliome v0.203 TMX2 Zornitza Stark Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.202 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.202 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.202 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Mendeliome v0.201 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Mendeliome v0.200 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.199 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Mendeliome v0.199 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.197 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.197 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Mendeliome v0.196 NIN Zornitza Stark Publications for gene: NIN were set to
Mendeliome v0.195 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.194 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Mendeliome v0.194 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.193 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.193 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.193 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Mendeliome v0.192 NECAP1 Zornitza Stark Publications for gene: NECAP1 were set to
Mendeliome v0.191 NECAP1 Zornitza Stark Mode of inheritance for gene: NECAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.190 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Mendeliome v0.190 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.189 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Mendeliome v0.188 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.186 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.186 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Mendeliome v0.185 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Mendeliome v0.184 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.183 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Mendeliome v0.183 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Mendeliome v0.181 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Mendeliome v0.180 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.179 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mendeliome v0.179 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mendeliome v0.176 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mendeliome v0.175 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.174 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mendeliome v0.174 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Classified gene: WDR91 as Red List (low evidence)
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence)
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.169 CDK16 Zornitza Stark gene: CDK16 was added
gene: CDK16 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability
Review for gene: CDK16 was set to AMBER
Added comment: Single family described in this manuscript describing multiple candidate genes for XLID.
Sources: Expert list
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.168 MIR17HG Zornitza Stark Classified gene: MIR17HG as Green List (high evidence)
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.167 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR17HG were set to 25391829; 21892160
Phenotypes for gene: MIR17HG were set to Feingold syndrome 2; OMIM #614326
Review for gene: MIR17HG was set to GREEN
Added comment: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.166 KLF7 Zornitza Stark Classified gene: KLF7 as Green List (high evidence)
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.165 KLF7 Zornitza Stark gene: KLF7 was added
gene: KLF7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF7 were set to 29251763
Phenotypes for gene: KLF7 were set to Intellectual disability
Review for gene: KLF7 was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants; animal model data supportive.
Sources: Literature
Mendeliome v0.164 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.164 KANK1 Zornitza Stark Phenotypes for gene: KANK1 were changed from to Nephrotic syndrome; Cerebral palsy, spastic quadriplegic, 2, MIM#612900
Mendeliome v0.163 KANK1 Zornitza Stark Publications for gene: KANK1 were set to
Mendeliome v0.162 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.161 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Mendeliome v0.161 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.160 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 25961457, 29729439, 30684669, 16301218; Phenotypes: Nephrotic syndrome, Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.160 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Mendeliome v0.160 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489
Mendeliome v0.159 IGF2 Zornitza Stark Publications for gene: IGF2 were set to
Mendeliome v0.158 IGF2 Zornitza Stark Mode of inheritance for gene: IGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.157 IGF2 Zornitza Stark reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.156 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Mendeliome v0.156 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070
Mendeliome v0.155 GORAB Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.154 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.154 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Mendeliome v0.154 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513
Mendeliome v0.153 GAD1 Zornitza Stark Publications for gene: GAD1 were set to
Mendeliome v0.152 GAD1 Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.151 GAD1 Zornitza Stark Classified gene: GAD1 as Red List (low evidence)
Mendeliome v0.151 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Mendeliome v0.149 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Mendeliome v0.149 FRMPD4 Zornitza Stark Classified gene: FRMPD4 as Green List (high evidence)
Mendeliome v0.149 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Mendeliome v0.148 FRMPD4 Zornitza Stark gene: FRMPD4 was added
gene: FRMPD4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMPD4 were set to 25644381; 29267967
Phenotypes for gene: FRMPD4 were set to Mental retardation, X-linked 104, MIM#300983
Review for gene: FRMPD4 was set to GREEN
Added comment: Multiple affected individuals from unrelated families reported.
Sources: Expert list
Mendeliome v0.147 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence).
Mendeliome v0.147 FBXO31 Zornitza Stark gene: FBXO31 was added
gene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO31 were set to 24623383
Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979
Review for gene: FBXO31 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Mendeliome v0.146 CFAP57 Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence)
Mendeliome v0.146 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.145 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Green List (High Evidence).
Mendeliome v0.145 CFAP57 Sebastian Lunke reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: bioRxiv 773028, doi: https://doi.org/10.1101/773028; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.145 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.145 EXOSC2 Zornitza Stark Phenotypes for gene: EXOSC2 were changed from to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Mendeliome v0.144 EXOSC2 Zornitza Stark Publications for gene: EXOSC2 were set to
Mendeliome v0.143 EXOSC2 Zornitza Stark Mode of inheritance for gene: EXOSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.142 EXOSC2 Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence)
Mendeliome v0.142 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.140 ERMARD Zornitza Stark Added comment: Comment when marking as ready: Single affected individual described in heterozygous missense in this gene; rest of evidence is based on cytogenetic data.
Mendeliome v0.140 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.140 ERMARD Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544
Mendeliome v0.139 ERMARD Zornitza Stark Publications for gene: ERMARD were set to
Mendeliome v0.138 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.137 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Mendeliome v0.137 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.136 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.136 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Mendeliome v0.136 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly
Mendeliome v0.135 EOMES Zornitza Stark Publications for gene: EOMES were set to
Mendeliome v0.134 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.133 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Mendeliome v0.133 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Mendeliome v0.131 DPYS Zornitza Stark Gene: dpys has been classified as Green List (High Evidence).
Mendeliome v0.131 DPYS Zornitza Stark Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748
Mendeliome v0.130 DPYS Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.129 DPYS Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.129 DPP10 Zornitza Stark edited their review of gene: DPP10: Added comment: Link to autism based on CNV data.; Changed publications: 28670437
Mendeliome v0.129 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Mendeliome v0.129 DNAJC12 Zornitza Stark Phenotypes for gene: DNAJC12 were changed from to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Mendeliome v0.128 DNAJC12 Zornitza Stark Mode of inheritance for gene: DNAJC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.126 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Mendeliome v0.126 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Mendeliome v0.126 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Mendeliome v0.125 DLG4 Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.125 DDB1 Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence).
Mendeliome v0.125 DDB1 Zornitza Stark Phenotypes for gene: DDB1 were changed from to Syndromic intellectual disability
Mendeliome v0.124 DDB1 Zornitza Stark Mode of inheritance for gene: DDB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.123 DDB1 Zornitza Stark reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.123 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Mendeliome v0.123 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Mendeliome v0.123 CTNNA2 Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Mendeliome v0.122 CTNNA2 Zornitza Stark Publications for gene: CTNNA2 were set to
Mendeliome v0.121 CTNNA2 Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.119 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.119 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Mendeliome v0.119 CP Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290
Mendeliome v0.118 CP Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.117 CP Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.117 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Green List (High Evidence).
Mendeliome v0.117 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Mendeliome v0.116 COX4I2 Zornitza Stark Publications for gene: COX4I2 were set to
Mendeliome v0.115 COX4I2 Zornitza Stark Mode of inheritance for gene: COX4I2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.113 PDIA2 Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence).
Mendeliome v0.113 PDIA2 Zornitza Stark Phenotypes for gene: PDIA2 were changed from to Bicuspid aortic valve
Mendeliome v0.112 PDIA2 Zornitza Stark Publications for gene: PDIA2 were set to
Mendeliome v0.111 PDIA2 Zornitza Stark Mode of inheritance for gene: PDIA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.110 PDIA2 Zornitza Stark Classified gene: PDIA2 as Red List (low evidence)
Mendeliome v0.110 PDIA2 Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence).
Mendeliome v0.109 PDIA2 Zornitza Stark reviewed gene: PDIA2: Rating: RED; Mode of pathogenicity: None; Publications: 20098615; Phenotypes: Bicuspid aortic valve; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.109 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.109 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mendeliome v0.108 COX14 Zornitza Stark Publications for gene: COX14 were set to
Mendeliome v0.107 COX14 Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.106 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Mendeliome v0.106 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.104 CNTN4 Zornitza Stark Marked gene: CNTN4 as ready
Mendeliome v0.104 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Mendeliome v0.104 CNTN4 Zornitza Stark Classified gene: CNTN4 as Red List (low evidence)
Mendeliome v0.104 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Mendeliome v0.102 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.102 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728
Mendeliome v0.101 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Mendeliome v0.100 CEP63 Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.99 CEP63 Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence)
Mendeliome v0.99 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.97 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.97 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Mendeliome v0.96 CDK6 Zornitza Stark Publications for gene: CDK6 were set to
Mendeliome v0.95 CDK6 Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.94 CDK6 Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence)
Mendeliome v0.94 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.92 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.92 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750
Mendeliome v0.91 CD96 Zornitza Stark Publications for gene: CD96 were set to
Mendeliome v0.90 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.89 CD96 Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence)
Mendeliome v0.89 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.87 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Mendeliome v0.87 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Mendeliome v0.86 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Mendeliome v0.85 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.83 SALL3 Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence).
Mendeliome v0.83 SALL3 Zornitza Stark Classified gene: SALL3 as Red List (low evidence)
Mendeliome v0.83 SALL3 Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence).
Mendeliome v0.82 SALL3 Zornitza Stark reviewed gene: SALL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.82 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Mendeliome v0.82 CCDC8 Zornitza Stark Phenotypes for gene: CCDC8 were changed from to 3-M syndrome 3, MIM#614205
Mendeliome v0.81 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Mendeliome v0.80 CCDC8 Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.79 CCDC8 Zornitza Stark reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.79 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.79 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807
Mendeliome v0.78 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Mendeliome v0.77 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.76 CCDC78 Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence)
Mendeliome v0.76 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.74 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Mendeliome v0.74 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Mendeliome v0.73 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Mendeliome v0.72 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.69 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Mendeliome v0.65 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Mendeliome v0.65 BDNF Zornitza Stark Classified gene: BDNF as Red List (low evidence)
Mendeliome v0.65 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Mendeliome v0.64 BDNF Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.64 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.64 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Mendeliome v0.64 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.62 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Mendeliome v0.62 ADD3 Zornitza Stark Classified gene: ADD3 as Green List (high evidence)
Mendeliome v0.62 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Mendeliome v0.61 ADD3 Zornitza Stark gene: ADD3 was added
gene: ADD3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to 29768408; 23836506
Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Added comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability.
Sources: Expert list
Mendeliome v0.60 TENM1 Zornitza Stark Marked gene: TENM1 as ready
Mendeliome v0.60 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Mendeliome v0.60 TENM1 Zornitza Stark Classified gene: TENM1 as Red List (low evidence)
Mendeliome v0.60 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Mendeliome v0.59 TENM1 Zornitza Stark reviewed gene: TENM1: Rating: RED; Mode of pathogenicity: None; Publications: 27040985, 25666757; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.58 MYEF2 Zornitza Stark Gene: myef2 has been classified as Red List (Low Evidence).
Mendeliome v0.58 MYEF2 Zornitza Stark Classified gene: MYEF2 as Red List (low evidence)
Mendeliome v0.58 MYEF2 Zornitza Stark Gene: myef2 has been classified as Red List (Low Evidence).
Mendeliome v0.57 MYEF2 Zornitza Stark reviewed gene: MYEF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.56 MYH7B Zornitza Stark Gene: myh7b has been classified as Red List (Low Evidence).
Mendeliome v0.56 MYH7B Zornitza Stark Classified gene: MYH7B as Red List (low evidence)
Mendeliome v0.56 MYH7B Zornitza Stark Gene: myh7b has been classified as Red List (Low Evidence).
Mendeliome v0.55 SCRIB Zornitza Stark Classified gene: SCRIB as Red List (low evidence)
Mendeliome v0.55 SCRIB Zornitza Stark Gene: scrib has been classified as Red List (Low Evidence).
Mendeliome v0.53 SCRIB Zornitza Stark Gene: scrib has been classified as Green List (High Evidence).
Mendeliome v0.53 SCRIB Zornitza Stark reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: None; Publications: 24140112, 23922697; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.53 TTI1 Sebastian Lunke Marked gene: TTI1 as ready
Mendeliome v0.53 TTI1 Sebastian Lunke Gene: tti1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.53 TTI1 Sebastian Lunke Classified gene: TTI1 as Amber List (moderate evidence)
Mendeliome v0.53 TTI1 Sebastian Lunke Added comment: Comment on list classification: Some patient evidence for association with ID, no patients identified to support association with dystonia or ataxia
Mendeliome v0.53 TTI1 Sebastian Lunke Gene: tti1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.51 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Mendeliome v0.51 SLC27A5 Zornitza Stark Classified gene: SLC27A5 as Red List (low evidence)
Mendeliome v0.51 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Mendeliome v0.49 TLR4 Zornitza Stark Marked gene: TLR4 as ready
Mendeliome v0.49 TLR4 Zornitza Stark Gene: tlr4 has been classified as Red List (Low Evidence).
Mendeliome v0.49 TLR4 Zornitza Stark Classified gene: TLR4 as Red List (low evidence)
Mendeliome v0.49 TLR4 Zornitza Stark Gene: tlr4 has been classified as Red List (Low Evidence).
Mendeliome v0.47 ERG Zornitza Stark Gene: erg has been classified as Red List (Low Evidence).
Mendeliome v0.47 ERG Zornitza Stark Classified gene: ERG as Red List (low evidence)
Mendeliome v0.47 ERG Zornitza Stark Gene: erg has been classified as Red List (Low Evidence).
Mendeliome v0.46 ERG Zornitza Stark reviewed gene: ERG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.46 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.46 TNRC6B Zornitza Stark Classified gene: TNRC6B as Red List (low evidence)
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.43 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.43 ZNF526 Zornitza Stark Added comment: Comment on list classification: Found unpublished abstract linking to AR intellectual disability in consanguineous Iranian population, no functional data provided.
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.42 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.42 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.41 ZNF526 Zornitza Stark reviewed gene: ZNF526: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.41 HOXD4 Zornitza Stark Gene: hoxd4 has been classified as Red List (Low Evidence).
Mendeliome v0.41 HOXD4 Zornitza Stark Classified gene: HOXD4 as Red List (low evidence)
Mendeliome v0.41 HOXD4 Zornitza Stark Gene: hoxd4 has been classified as Red List (Low Evidence).
Mendeliome v0.40 HOXD4 Zornitza Stark reviewed gene: HOXD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.39 PAK6 Zornitza Stark Gene: pak6 has been classified as Red List (Low Evidence).
Mendeliome v0.39 PAK6 Zornitza Stark Classified gene: PAK6 as Red List (low evidence)
Mendeliome v0.39 PAK6 Zornitza Stark Gene: pak6 has been classified as Red List (Low Evidence).
Mendeliome v0.38 PAK6 Zornitza Stark reviewed gene: PAK6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.38 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Mendeliome v0.38 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Mendeliome v0.38 TIRAP Zornitza Stark Classified gene: TIRAP as Red List (low evidence)
Mendeliome v0.38 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Mendeliome v0.37 TIRAP Zornitza Stark reviewed gene: TIRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.37 G6PC2 Zornitza Stark Gene: g6pc2 has been classified as Red List (Low Evidence).
Mendeliome v0.37 G6PC2 Zornitza Stark Classified gene: G6PC2 as Red List (low evidence)
Mendeliome v0.37 G6PC2 Zornitza Stark Gene: g6pc2 has been classified as Red List (Low Evidence).
Mendeliome v0.36 G6PC2 Zornitza Stark reviewed gene: G6PC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.36 CRYL1 Zornitza Stark Gene: cryl1 has been classified as Red List (Low Evidence).
Mendeliome v0.36 CRYL1 Zornitza Stark Classified gene: CRYL1 as Red List (low evidence)
Mendeliome v0.36 CRYL1 Zornitza Stark Gene: cryl1 has been classified as Red List (Low Evidence).
Mendeliome v0.35 CRYL1 Zornitza Stark reviewed gene: CRYL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.35 IQCG Zornitza Stark Gene: iqcg has been classified as Red List (Low Evidence).
Mendeliome v0.35 IQCG Zornitza Stark Classified gene: IQCG as Red List (low evidence)
Mendeliome v0.35 IQCG Zornitza Stark Gene: iqcg has been classified as Red List (Low Evidence).
Mendeliome v0.34 IQCG Zornitza Stark reviewed gene: IQCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.34 FBF1 Zornitza Stark Gene: fbf1 has been classified as Red List (Low Evidence).
Mendeliome v0.34 FBF1 Zornitza Stark Classified gene: FBF1 as Red List (low evidence)
Mendeliome v0.34 FBF1 Zornitza Stark Gene: fbf1 has been classified as Red List (Low Evidence).
Mendeliome v0.33 FBF1 Zornitza Stark reviewed gene: FBF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.33 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Mendeliome v0.33 RNF135 Zornitza Stark Classified gene: RNF135 as Red List (low evidence)
Mendeliome v0.33 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Mendeliome v0.31 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Mendeliome v0.31 LAMC1 Zornitza Stark Classified gene: LAMC1 as Red List (low evidence)
Mendeliome v0.31 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Mendeliome v0.30 LAMC1 Zornitza Stark reviewed gene: LAMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.30 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.30 HCN2 Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence)
Mendeliome v0.30 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.28 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Mendeliome v0.28 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Mendeliome v0.28 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Mendeliome v0.28 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Mendeliome v0.27 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.27 H3F3B Zornitza Stark Classified gene: H3F3B as Red List (low evidence)
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.24 MASTL Zornitza Stark Marked gene: MASTL as ready
Mendeliome v0.24 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.24 MASTL Zornitza Stark Classified gene: MASTL as Amber List (moderate evidence)
Mendeliome v0.24 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.23 C3orf58 Zornitza Stark Classified gene: C3orf58 as Red List (low evidence)
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.22 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.22 PCLO Zornitza Stark Classified gene: PCLO as Amber List (moderate evidence)
Mendeliome v0.22 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.17 PTPRR Zornitza Stark Classified gene: PTPRR as Red List (low evidence)
Mendeliome v0.17 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.16 PTPRR Zornitza Stark reviewed gene: PTPRR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.16 ARHGEF15 Zornitza Stark Classified gene: ARHGEF15 as Red List (low evidence)
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.15 ARHGEF15 Zornitza Stark reviewed gene: ARHGEF15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.15 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Mendeliome v0.15 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Mendeliome v0.15 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Mendeliome v0.14 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MIM#618505
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated patients reported with de novo variants in this gene, no functional evidence.
Sources: Literature
Mendeliome v0.11 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mendeliome v0.11 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9 LLGL1 Zornitza Stark Gene: llgl1 has been classified as Red List (Low Evidence).
Mendeliome v0.9 LLGL1 Zornitza Stark Classified gene: LLGL1 as Red List (low evidence)
Mendeliome v0.9 LLGL1 Zornitza Stark Gene: llgl1 has been classified as Red List (Low Evidence).
Mendeliome v0.8 LLGL1 Zornitza Stark reviewed gene: LLGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.8 STAT4 Zornitza Stark Classified gene: STAT4 as Red List (low evidence)
Mendeliome v0.8 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Mendeliome v0.7 STAT4 Zornitza Stark Classified gene: STAT4 as Red List (low evidence)
Mendeliome v0.7 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Mendeliome v0.6 STAT4 Zornitza Stark reviewed gene: STAT4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6 ASTN2 Zornitza Stark Marked gene: ASTN2 as ready
Mendeliome v0.6 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6 ASTN2 Zornitza Stark Classified gene: ASTN2 as Amber List (moderate evidence)
Mendeliome v0.6 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5 ASTN2 Zornitza Stark Classified gene: ASTN2 as Amber List (moderate evidence)
Mendeliome v0.5 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4 ASTN2 Zornitza Stark reviewed gene: ASTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.4 DPP10 Zornitza Stark Classified gene: DPP10 as Red List (low evidence)
Mendeliome v0.4 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.3 DPP10 Zornitza Stark Classified gene: DPP10 as Red List (low evidence)
Mendeliome v0.3 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.2 DPP10 Zornitza Stark reviewed gene: DPP10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.2 DLEC1 Zornitza Stark Classified gene: DLEC1 as Red List (low evidence)
Mendeliome v0.2 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.1 DLEC1 Zornitza Stark Classified gene: DLEC1 as Red List (low evidence)
Mendeliome v0.1 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.0 DLEC1 Zornitza Stark reviewed gene: DLEC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZSWIM6 was set to Unknown
Mendeliome v0.0 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNHIT3 was set to Unknown
Mendeliome v0.0 ZNF81 Zornitza Stark gene: ZNF81 was added
gene: ZNF81 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF81 was set to Unknown
Mendeliome v0.0 ZNF750 Zornitza Stark gene: ZNF750 was added
gene: ZNF750 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF750 was set to Unknown
Mendeliome v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF711 was set to Unknown
Mendeliome v0.0 ZNF687 Zornitza Stark gene: ZNF687 was added
gene: ZNF687 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF687 was set to Unknown
Mendeliome v0.0 ZNF644 Zornitza Stark gene: ZNF644 was added
gene: ZNF644 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF644 was set to Unknown
Mendeliome v0.0 ZNF592 Zornitza Stark gene: ZNF592 was added
gene: ZNF592 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF592 was set to Unknown
Mendeliome v0.0 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF526 was set to Unknown
Mendeliome v0.0 ZNF513 Zornitza Stark gene: ZNF513 was added
gene: ZNF513 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF513 was set to Unknown
Mendeliome v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF469 was set to Unknown
Mendeliome v0.0 ZNF462 Zornitza Stark gene: ZNF462 was added
gene: ZNF462 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF462 was set to Unknown
Mendeliome v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF423 was set to Unknown
Mendeliome v0.0 ZNF408 Zornitza Stark gene: ZNF408 was added
gene: ZNF408 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF408 was set to Unknown
Mendeliome v0.0 ZNF407 Zornitza Stark gene: ZNF407 was added
gene: ZNF407 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF407 was set to Unknown
Mendeliome v0.0 ZNF365 Zornitza Stark gene: ZNF365 was added
gene: ZNF365 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF365 was set to Unknown
Mendeliome v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF335 was set to Unknown
Mendeliome v0.0 ZNF141 Zornitza Stark gene: ZNF141 was added
gene: ZNF141 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF141 was set to Unknown
Mendeliome v0.0 ZMYND11 Zornitza Stark gene: ZMYND11 was added
gene: ZMYND11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMYND11 was set to Unknown
Mendeliome v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMYND10 was set to Unknown
Mendeliome v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMPSTE24 was set to Unknown
Mendeliome v0.0 ZIC4 Zornitza Stark gene: ZIC4 was added
gene: ZIC4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC4 was set to Unknown
Mendeliome v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC3 was set to Unknown
Mendeliome v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC2 was set to Unknown
Mendeliome v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC1 was set to Unknown
Mendeliome v0.0 ZFYVE27 Zornitza Stark gene: ZFYVE27 was added
gene: ZFYVE27 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFYVE27 was set to Unknown
Mendeliome v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFYVE26 was set to Unknown
Mendeliome v0.0 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFPM2 was set to Unknown
Mendeliome v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFP57 was set to Unknown
Mendeliome v0.0 ZFP42 Zornitza Stark gene: ZFP42 was added
gene: ZFP42 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFP42 was set to Unknown
Mendeliome v0.0 ZFP36L1 Zornitza Stark gene: ZFP36L1 was added
gene: ZFP36L1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFP36L1 was set to Unknown
Mendeliome v0.0 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFHX3 was set to Unknown
Mendeliome v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB2 was set to Unknown
Mendeliome v0.0 ZEB1 Zornitza Stark gene: ZEB1 was added
gene: ZEB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB1 was set to Unknown
Mendeliome v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZDHHC9 was set to Unknown
Mendeliome v0.0 ZDHHC15 Zornitza Stark gene: ZDHHC15 was added
gene: ZDHHC15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZDHHC15 was set to Unknown
Mendeliome v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZC4H2 was set to Unknown
Mendeliome v0.0 ZC3H14 Zornitza Stark gene: ZC3H14 was added
gene: ZC3H14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZC3H14 was set to Unknown
Mendeliome v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB24 was set to Unknown
Mendeliome v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB20 was set to Unknown
Mendeliome v0.0 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB18 was set to Unknown
Mendeliome v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB16 was set to Unknown
Mendeliome v0.0 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB11 was set to Unknown
Mendeliome v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZAP70 was set to Unknown
Mendeliome v0.0 YY1AP1 Zornitza Stark gene: YY1AP1 was added
gene: YY1AP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YY1AP1 was set to Unknown
Mendeliome v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YY1 was set to Unknown
Mendeliome v0.0 YWHAG Zornitza Stark gene: YWHAG was added
gene: YWHAG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YWHAG was set to Unknown
Mendeliome v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS2 was set to Unknown
Mendeliome v0.0 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS was set to Unknown
Mendeliome v0.0 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YAP1 was set to Unknown
Mendeliome v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XYLT2 was set to Unknown
Mendeliome v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XYLT1 was set to Unknown
Mendeliome v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC4 was set to Unknown
Mendeliome v0.0 XRCC3 Zornitza Stark gene: XRCC3 was added
gene: XRCC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC3 was set to Unknown
Mendeliome v0.0 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC2 was set to Unknown
Mendeliome v0.0 XPR1 Zornitza Stark gene: XPR1 was added
gene: XPR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPR1 was set to Unknown
Mendeliome v0.0 XPO5 Zornitza Stark gene: XPO5 was added
gene: XPO5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPO5 was set to Unknown
Mendeliome v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Mendeliome v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPC was set to Unknown
Mendeliome v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPA was set to Unknown
Mendeliome v0.0 XIST Zornitza Stark gene: XIST was added
gene: XIST was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XIST was set to Unknown
Mendeliome v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XIAP was set to Unknown
Mendeliome v0.0 XG Zornitza Stark gene: XG was added
gene: XG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XG was set to Unknown
Mendeliome v0.0 XDH Zornitza Stark gene: XDH was added
gene: XDH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XDH was set to Unknown
Mendeliome v0.0 XBP1 Zornitza Stark gene: XBP1 was added
gene: XBP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XBP1 was set to Unknown
Mendeliome v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WWOX was set to Unknown
Mendeliome v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to Unknown
Mendeliome v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRAP53 was set to Unknown
Mendeliome v0.0 WNT9B Zornitza Stark gene: WNT9B was added
gene: WNT9B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT9B was set to Unknown
Mendeliome v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT7A was set to Unknown
Mendeliome v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT5A was set to Unknown
Mendeliome v0.0 WNT4 Zornitza Stark gene: WNT4 was added
gene: WNT4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT4 was set to Unknown
Mendeliome v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT3 was set to Unknown
Mendeliome v0.0 WNT2B Zornitza Stark gene: WNT2B was added
gene: WNT2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT2B was set to Unknown
Mendeliome v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT10B was set to Unknown
Mendeliome v0.0 WNT10A Zornitza Stark gene: WNT10A was added
gene: WNT10A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT10A was set to Unknown
Mendeliome v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT1 was set to Unknown
Mendeliome v0.0 WNK4 Zornitza Stark gene: WNK4 was added
gene: WNK4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNK4 was set to Unknown
Mendeliome v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNK1 was set to Unknown
Mendeliome v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WIPF1 was set to Unknown
Mendeliome v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WHRN was set to Unknown
Mendeliome v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to Unknown
Mendeliome v0.0 WEE2 Zornitza Stark gene: WEE2 was added
gene: WEE2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WEE2 was set to Unknown
Mendeliome v0.0 WDR91 Zornitza Stark gene: WDR91 was added
gene: WDR91 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR91 was set to Unknown
Mendeliome v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR81 was set to Unknown
Mendeliome v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR73 was set to Unknown
Mendeliome v0.0 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR72 was set to Unknown
Mendeliome v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR62 was set to Unknown
Mendeliome v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR60 was set to Unknown
Mendeliome v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR45B was set to Unknown
Mendeliome v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR45 was set to Unknown
Mendeliome v0.0 WDR4 Zornitza Stark gene: WDR4 was added
gene: WDR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR4 was set to Unknown
Mendeliome v0.0 WDR37 Zornitza Stark gene: WDR37 was added
gene: WDR37 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR37 was set to Unknown
Mendeliome v0.0 WDR36 Zornitza Stark gene: WDR36 was added
gene: WDR36 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR36 was set to Unknown
Mendeliome v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR35 was set to Unknown
Mendeliome v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR34 was set to Unknown
Mendeliome v0.0 WDR26 Zornitza Stark gene: WDR26 was added
gene: WDR26 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR26 was set to Unknown
Mendeliome v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR19 was set to Unknown
Mendeliome v0.0 WDR11 Zornitza Stark gene: WDR11 was added
gene: WDR11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR11 was set to Unknown
Mendeliome v0.0 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR1 was set to Unknown
Mendeliome v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDPCP was set to Unknown
Mendeliome v0.0 WDFY3 Zornitza Stark gene: WDFY3 was added
gene: WDFY3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDFY3 was set to Unknown
Mendeliome v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WASHC5 was set to Unknown
Mendeliome v0.0 WASF1 Zornitza Stark gene: WASF1 was added
gene: WASF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WASF1 was set to Unknown
Mendeliome v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAS was set to Unknown
Mendeliome v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WARS2 was set to Unknown
Mendeliome v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAC was set to Unknown
Mendeliome v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VWF was set to Unknown
Mendeliome v0.0 VTN Zornitza Stark gene: VTN was added
gene: VTN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VTN was set to Unknown
Mendeliome v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VSX2 was set to Unknown
Mendeliome v0.0 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VSX1 was set to Unknown
Mendeliome v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VRK1 was set to Unknown
Mendeliome v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS53 was set to Unknown
Mendeliome v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS45 was set to Unknown
Mendeliome v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS37A was set to Unknown
Mendeliome v0.0 VPS35 Zornitza Stark gene: VPS35 was added
gene: VPS35 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS35 was set to Unknown
Mendeliome v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33B was set to Unknown
Mendeliome v0.0 VPS33A Zornitza Stark gene: VPS33A was added
gene: VPS33A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33A was set to Unknown
Mendeliome v0.0 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13D was set to Unknown
Mendeliome v0.0 VPS13C Zornitza Stark gene: VPS13C was added
gene: VPS13C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13C was set to Unknown
Mendeliome v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13B was set to Unknown
Mendeliome v0.0 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS11 was set to Unknown
Mendeliome v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VMA21 was set to Unknown
Mendeliome v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Mendeliome v0.0 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VKORC1 was set to Unknown
Mendeliome v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VIPAS39 was set to Unknown
Mendeliome v0.0 VIM Zornitza Stark gene: VIM was added
gene: VIM was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VIM was set to Unknown
Mendeliome v0.0 VEGFC Zornitza Stark gene: VEGFC was added
gene: VEGFC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VEGFC was set to Unknown
Mendeliome v0.0 VEGFA Zornitza Stark gene: VEGFA was added
gene: VEGFA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VEGFA was set to Unknown
Mendeliome v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VDR was set to Unknown
Mendeliome v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VCL was set to Unknown
Mendeliome v0.0 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VCAN was set to Unknown
Mendeliome v0.0 VAX1 Zornitza Stark gene: VAX1 was added
gene: VAX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAX1 was set to Unknown
Mendeliome v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS2 was set to Unknown
Mendeliome v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS was set to Unknown
Mendeliome v0.0 VANGL2 Zornitza Stark gene: VANGL2 was added
gene: VANGL2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VANGL2 was set to Unknown
Mendeliome v0.0 VANGL1 Zornitza Stark gene: VANGL1 was added
gene: VANGL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VANGL1 was set to Unknown
Mendeliome v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAMP1 was set to Unknown
Mendeliome v0.0 VAC14 Zornitza Stark gene: VAC14 was added
gene: VAC14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAC14 was set to Unknown
Mendeliome v0.0 UVSSA Zornitza Stark gene: UVSSA was added
gene: UVSSA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UVSSA was set to Unknown
Mendeliome v0.0 UTS2B Zornitza Stark gene: UTS2B was added
gene: UTS2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UTS2B was set to Unknown
Mendeliome v0.0 UTP4 Zornitza Stark gene: UTP4 was added
gene: UTP4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UTP4 was set to Unknown
Mendeliome v0.0 USP9Y Zornitza Stark gene: USP9Y was added
gene: USP9Y was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USP9Y was set to Unknown
Mendeliome v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USP9X was set to Unknown
Mendeliome v0.0 USP7 Zornitza Stark gene: USP7 was added
gene: USP7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USP7 was set to Unknown
Mendeliome v0.0 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USP18 was set to Unknown
Mendeliome v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH2A was set to Unknown
Mendeliome v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH1G was set to Unknown
Mendeliome v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USH1C was set to Unknown
Mendeliome v0.0 USF1 Zornitza Stark gene: USF1 was added
gene: USF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USF1 was set to Unknown
Mendeliome v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USB1 was set to Unknown
Mendeliome v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UROS was set to Unknown
Mendeliome v0.0 UROD Zornitza Stark gene: UROD was added
gene: UROD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UROD was set to Unknown
Mendeliome v0.0 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UROC1 was set to Unknown
Mendeliome v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRQ was set to Unknown
Mendeliome v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRC2 was set to Unknown
Mendeliome v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRB was set to Unknown
Mendeliome v0.0 UQCC3 Zornitza Stark gene: UQCC3 was added
gene: UQCC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCC3 was set to Unknown
Mendeliome v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCC2 was set to Unknown
Mendeliome v0.0 UPK3A Zornitza Stark gene: UPK3A was added
gene: UPK3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPK3A was set to Unknown
Mendeliome v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPF3B was set to Unknown
Mendeliome v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPB1 was set to Unknown
Mendeliome v0.0 UNG Zornitza Stark gene: UNG was added
gene: UNG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNG was set to Unknown
Mendeliome v0.0 UNC93B1 Zornitza Stark gene: UNC93B1 was added
gene: UNC93B1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC93B1 was set to Unknown
Mendeliome v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC80 was set to Unknown
Mendeliome v0.0 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC45A was set to Unknown
Mendeliome v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13D was set to Unknown
Mendeliome v0.0 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13A was set to Unknown
Mendeliome v0.0 UNC119 Zornitza Stark gene: UNC119 was added
gene: UNC119 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC119 was set to Unknown
Mendeliome v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMPS was set to Unknown
Mendeliome v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMOD was set to Unknown
Mendeliome v0.0 UGT2B17 Zornitza Stark gene: UGT2B17 was added
gene: UGT2B17 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UGT2B17 was set to Unknown
Mendeliome v0.0 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UGT1A4 was set to Unknown
Mendeliome v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UGT1A1 was set to Unknown
Mendeliome v0.0 UFSP2 Zornitza Stark gene: UFSP2 was added
gene: UFSP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UFSP2 was set to Unknown
Mendeliome v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UFM1 was set to Unknown
Mendeliome v0.0 UCP3 Zornitza Stark gene: UCP3 was added
gene: UCP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCP3 was set to Unknown
Mendeliome v0.0 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCP2 was set to Unknown
Mendeliome v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBTF was set to Unknown
Mendeliome v0.0 UBR4 Zornitza Stark gene: UBR4 was added
gene: UBR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBR4 was set to Unknown
Mendeliome v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBR1 was set to Unknown
Mendeliome v0.0 UBIAD1 Zornitza Stark gene: UBIAD1 was added
gene: UBIAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBIAD1 was set to Unknown
Mendeliome v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3B was set to Unknown
Mendeliome v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3A was set to Unknown
Mendeliome v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE2T was set to Unknown
Mendeliome v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE2A was set to Unknown
Mendeliome v0.0 UBAP1 Zornitza Stark gene: UBAP1 was added
gene: UBAP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBAP1 was set to Unknown
Mendeliome v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBA5 was set to Unknown
Mendeliome v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBA1 was set to Unknown
Mendeliome v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYRP1 was set to Unknown
Mendeliome v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYROBP was set to Unknown
Mendeliome v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYR was set to Unknown
Mendeliome v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYMP was set to Unknown
Mendeliome v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYK2 was set to Unknown
Mendeliome v0.0 TXNRD2 Zornitza Stark gene: TXNRD2 was added
gene: TXNRD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNRD2 was set to Unknown
Mendeliome v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNL4A was set to Unknown
Mendeliome v0.0 TXNDC15 Zornitza Stark gene: TXNDC15 was added
gene: TXNDC15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNDC15 was set to Unknown
Mendeliome v0.0 TXN2 Zornitza Stark gene: TXN2 was added
gene: TXN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXN2 was set to Unknown
Mendeliome v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWNK was set to Unknown
Mendeliome v0.0 TWIST2 Zornitza Stark gene: TWIST2 was added
gene: TWIST2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWIST2 was set to Unknown
Mendeliome v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWIST1 was set to Unknown
Mendeliome v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUSC3 was set to Unknown
Mendeliome v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TULP1 was set to Unknown
Mendeliome v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUFM was set to Unknown
Mendeliome v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Mendeliome v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Mendeliome v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBG1 was set to Unknown
Mendeliome v0.0 TUBB8 Zornitza Stark gene: TUBB8 was added
gene: TUBB8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB8 was set to Unknown
Mendeliome v0.0 TUBB4B Zornitza Stark gene: TUBB4B was added
gene: TUBB4B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4B was set to Unknown
Mendeliome v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4A was set to Unknown
Mendeliome v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB3 was set to Unknown
Mendeliome v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2B was set to Unknown
Mendeliome v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2A was set to Unknown
Mendeliome v0.0 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB1 was set to Unknown
Mendeliome v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB was set to Unknown
Mendeliome v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA8 was set to Unknown
Mendeliome v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA1A was set to Unknown
Mendeliome v0.0 TUB Zornitza Stark gene: TUB was added
gene: TUB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUB was set to Unknown
Mendeliome v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTR was set to Unknown
Mendeliome v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTPA was set to Unknown
Mendeliome v0.0 TTLL5 Zornitza Stark gene: TTLL5 was added
gene: TTLL5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTLL5 was set to Unknown
Mendeliome v0.0 TTLL10 Zornitza Stark gene: TTLL10 was added
gene: TTLL10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTLL10 was set to Unknown
Mendeliome v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTI2 was set to Unknown
Mendeliome v0.0 TTI1 Zornitza Stark gene: TTI1 was added
gene: TTI1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTI1 was set to Unknown
Mendeliome v0.0 TTF1 Zornitza Stark gene: TTF1 was added
gene: TTF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTF1 was set to Unknown
Mendeliome v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC8 was set to Unknown
Mendeliome v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC7A was set to Unknown
Mendeliome v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC37 was set to Unknown
Mendeliome v0.0 TTC25 Zornitza Stark gene: TTC25 was added
gene: TTC25 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC25 was set to Unknown
Mendeliome v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Mendeliome v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC19 was set to Unknown
Mendeliome v0.0 TTBK2 Zornitza Stark gene: TTBK2 was added
gene: TTBK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTBK2 was set to Unknown
Mendeliome v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSR2 was set to Unknown
Mendeliome v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPYL1 was set to Unknown
Mendeliome v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPEAR was set to Unknown
Mendeliome v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPAN7 was set to Unknown
Mendeliome v0.0 TSPAN12 Zornitza Stark gene: TSPAN12 was added
gene: TSPAN12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPAN12 was set to Unknown
Mendeliome v0.0 TSHZ1 Zornitza Stark gene: TSHZ1 was added
gene: TSHZ1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSHZ1 was set to Unknown
Mendeliome v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSHR was set to Unknown
Mendeliome v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSHB was set to Unknown
Mendeliome v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSFM was set to Unknown
Mendeliome v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Mendeliome v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN34 was set to Unknown
Mendeliome v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN2 was set to Unknown
Mendeliome v0.0 TSEN15 Zornitza Stark gene: TSEN15 was added
gene: TSEN15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN15 was set to Unknown
Mendeliome v0.0 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRRAP was set to Unknown
Mendeliome v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV6 was set to Unknown
Mendeliome v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV4 was set to Unknown
Mendeliome v0.0 TRPV3 Zornitza Stark gene: TRPV3 was added
gene: TRPV3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV3 was set to Unknown
Mendeliome v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPS1 was set to Unknown
Mendeliome v0.0 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPM7 was set to Unknown
Mendeliome v0.0 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPM6 was set to Unknown
Mendeliome v0.0 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPM4 was set to Unknown
Mendeliome v0.0 TRPM1 Zornitza Stark gene: TRPM1 was added
gene: TRPM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPM1 was set to Unknown
Mendeliome v0.0 TRPC6 Zornitza Stark gene: TRPC6 was added
gene: TRPC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPC6 was set to Unknown
Mendeliome v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRNT1 was set to Unknown
Mendeliome v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMU was set to Unknown
Mendeliome v0.0 TRMT5 Zornitza Stark gene: TRMT5 was added
gene: TRMT5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMT5 was set to Unknown
Mendeliome v0.0 TRMT10C Zornitza Stark gene: TRMT10C was added
gene: TRMT10C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMT10C was set to Unknown
Mendeliome v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMT10A was set to Unknown
Mendeliome v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIT1 was set to Unknown
Mendeliome v0.0 TRIP4 Zornitza Stark gene: TRIP4 was added
gene: TRIP4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP4 was set to Unknown
Mendeliome v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP13 was set to Unknown
Mendeliome v0.0 TRIP12 Zornitza Stark gene: TRIP12 was added
gene: TRIP12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP12 was set to Unknown
Mendeliome v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP11 was set to Unknown
Mendeliome v0.0 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIOBP was set to Unknown
Mendeliome v0.0 TRIO Zornitza Stark gene: TRIO was added
gene: TRIO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIO was set to Unknown
Mendeliome v0.0 TRIM8 Zornitza Stark gene: TRIM8 was added
gene: TRIM8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM8 was set to Unknown
Mendeliome v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM37 was set to Unknown
Mendeliome v0.0 TRIM33 Zornitza Stark gene: TRIM33 was added
gene: TRIM33 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM33 was set to Unknown
Mendeliome v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM32 was set to Unknown
Mendeliome v0.0 TRIM27 Zornitza Stark gene: TRIM27 was added
gene: TRIM27 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM27 was set to Unknown
Mendeliome v0.0 TRIM24 Zornitza Stark gene: TRIM24 was added
gene: TRIM24 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM24 was set to Unknown
Mendeliome v0.0 TRIM2 Zornitza Stark gene: TRIM2 was added
gene: TRIM2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM2 was set to Unknown
Mendeliome v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRHR was set to Unknown
Mendeliome v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREX1 was set to Unknown
Mendeliome v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREM2 was set to Unknown
Mendeliome v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRDN was set to Unknown
Mendeliome v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC9 was set to Unknown
Mendeliome v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Mendeliome v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC2 was set to Unknown
Mendeliome v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Mendeliome v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC11 was set to Unknown
Mendeliome v0.0 TRAP1 Zornitza Stark gene: TRAP1 was added
gene: TRAP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to Unknown
Mendeliome v0.0 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAK1 was set to Unknown
Mendeliome v0.0 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAIP was set to Unknown
Mendeliome v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF7 was set to Unknown
Mendeliome v0.0 TRAF3IP2 Zornitza Stark gene: TRAF3IP2 was added
gene: TRAF3IP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3IP2 was set to Unknown
Mendeliome v0.0 TRAF3IP1 Zornitza Stark gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Mendeliome v0.0 TRAF3 Zornitza Stark gene: TRAF3 was added
gene: TRAF3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3 was set to Unknown
Mendeliome v0.0 TPTE2P5 Zornitza Stark gene: TPTE2P5 was added
gene: TPTE2P5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPTE2P5 was set to Unknown
Mendeliome v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPRN was set to Unknown
Mendeliome v0.0 TPRKB Zornitza Stark gene: TPRKB was added
gene: TPRKB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPRKB was set to Unknown
Mendeliome v0.0 TPP2 Zornitza Stark gene: TPP2 was added
gene: TPP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP2 was set to Unknown
Mendeliome v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP1 was set to Unknown
Mendeliome v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPO was set to Unknown
Mendeliome v0.0 TPMT Zornitza Stark gene: TPMT was added
gene: TPMT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPMT was set to Unknown
Mendeliome v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPM3 was set to Unknown
Mendeliome v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPM2 was set to Unknown
Mendeliome v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPK1 was set to Unknown
Mendeliome v0.0 TPH2 Zornitza Stark gene: TPH2 was added
gene: TPH2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPH2 was set to Unknown
Mendeliome v0.0 TPCN2 Zornitza Stark gene: TPCN2 was added
gene: TPCN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPCN2 was set to Unknown
Mendeliome v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TP63 was set to Unknown
Mendeliome v0.0 TP53RK Zornitza Stark gene: TP53RK was added
gene: TP53RK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TP53RK was set to Unknown
Mendeliome v0.0 TOR1A Zornitza Stark gene: TOR1A was added
gene: TOR1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOR1A was set to Unknown
Mendeliome v0.0 TOPORS Zornitza Stark gene: TOPORS was added
gene: TOPORS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOPORS was set to Unknown
Mendeliome v0.0 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOP3A was set to Unknown
Mendeliome v0.0 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TONSL was set to Unknown
Mendeliome v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOE1 was set to Unknown
Mendeliome v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNXB was set to Unknown
Mendeliome v0.0 TNRC6B Zornitza Stark gene: TNRC6B was added
gene: TNRC6B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to Unknown
Mendeliome v0.0 TNPO3 Zornitza Stark gene: TNPO3 was added
gene: TNPO3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNPO3 was set to Unknown
Mendeliome v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNT3 was set to Unknown
Mendeliome v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNT1 was set to Unknown
Mendeliome v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNI2 was set to Unknown
Mendeliome v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNC1 was set to Unknown
Mendeliome v0.0 TNK2 Zornitza Stark gene: TNK2 was added
gene: TNK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNK2 was set to Unknown
Mendeliome v0.0 TNIK Zornitza Stark gene: TNIK was added
gene: TNIK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNIK was set to Unknown
Mendeliome v0.0 TNFSF4 Zornitza Stark gene: TNFSF4 was added
gene: TNFSF4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF4 was set to Unknown
Mendeliome v0.0 TNFSF12 Zornitza Stark gene: TNFSF12 was added
gene: TNFSF12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF12 was set to Unknown
Mendeliome v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF11 was set to Unknown
Mendeliome v0.0 TNFRSF4 Zornitza Stark gene: TNFRSF4 was added
gene: TNFRSF4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF4 was set to Unknown
Mendeliome v0.0 TNFRSF1A Zornitza Stark gene: TNFRSF1A was added
gene: TNFRSF1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF1A was set to Unknown
Mendeliome v0.0 TNFRSF13C Zornitza Stark gene: TNFRSF13C was added
gene: TNFRSF13C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13C was set to Unknown
Mendeliome v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13B was set to Unknown
Mendeliome v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11B was set to Unknown
Mendeliome v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11A was set to Unknown
Mendeliome v0.0 TNFRSF10B Zornitza Stark gene: TNFRSF10B was added
gene: TNFRSF10B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF10B was set to Unknown
Mendeliome v0.0 TNFAIP3 Zornitza Stark gene: TNFAIP3 was added
gene: TNFAIP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFAIP3 was set to Unknown
Mendeliome v0.0 TNF Zornitza Stark gene: TNF was added
gene: TNF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNF was set to Unknown
Mendeliome v0.0 TNC Zornitza Stark gene: TNC was added
gene: TNC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNC was set to Unknown
Mendeliome v0.0 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMX2 was set to Unknown
Mendeliome v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMTC3 was set to Unknown
Mendeliome v0.0 TMTC2 Zornitza Stark gene: TMTC2 was added
gene: TMTC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMTC2 was set to Unknown
Mendeliome v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMPRSS6 was set to Unknown
Mendeliome v0.0 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMPRSS3 was set to Unknown
Mendeliome v0.0 TMPRSS15 Zornitza Stark gene: TMPRSS15 was added
gene: TMPRSS15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMPRSS15 was set to Unknown
Mendeliome v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMPO was set to Unknown
Mendeliome v0.0 TMLHE Zornitza Stark gene: TMLHE was added
gene: TMLHE was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMLHE was set to Unknown
Mendeliome v0.0 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMIE was set to Unknown
Mendeliome v0.0 TMEM98 Zornitza Stark gene: TMEM98 was added
gene: TMEM98 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM98 was set to Unknown
Mendeliome v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM70 was set to Unknown
Mendeliome v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM67 was set to Unknown
Mendeliome v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM38B was set to Unknown
Mendeliome v0.0 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM260 was set to Unknown
Mendeliome v0.0 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM240 was set to Unknown
Mendeliome v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM237 was set to Unknown
Mendeliome v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM231 was set to Unknown
Mendeliome v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM216 was set to Unknown
Mendeliome v0.0 TMEM199 Zornitza Stark gene: TMEM199 was added
gene: TMEM199 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM199 was set to Unknown
Mendeliome v0.0 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM173 was set to Unknown
Mendeliome v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM165 was set to Unknown
Mendeliome v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM138 was set to Unknown
Mendeliome v0.0 TMEM127 Zornitza Stark gene: TMEM127 was added
gene: TMEM127 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM127 was set to Unknown
Mendeliome v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM126B was set to Unknown
Mendeliome v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM126A was set to Unknown
Mendeliome v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM107 was set to Unknown
Mendeliome v0.0 TMEM106B Zornitza Stark gene: TMEM106B was added
gene: TMEM106B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM106B was set to Unknown
Mendeliome v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMCO1 was set to Unknown
Mendeliome v0.0 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMC8 was set to Unknown
Mendeliome v0.0 TMC6 Zornitza Stark gene: TMC6 was added
gene: TMC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMC6 was set to Unknown
Mendeliome v0.0 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMC1 was set to Unknown
Mendeliome v0.0 TLR7 Zornitza Stark gene: TLR7 was added
gene: TLR7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR7 was set to Unknown
Mendeliome v0.0 TLR5 Zornitza Stark gene: TLR5 was added
gene: TLR5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR5 was set to Unknown
Mendeliome v0.0 TLR4 Zornitza Stark gene: TLR4 was added
gene: TLR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR4 was set to Unknown
Mendeliome v0.0 TLR3 Zornitza Stark gene: TLR3 was added
gene: TLR3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR3 was set to Unknown
Mendeliome v0.0 TLR2 Zornitza Stark gene: TLR2 was added
gene: TLR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR2 was set to Unknown
Mendeliome v0.0 TLR1 Zornitza Stark gene: TLR1 was added
gene: TLR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLR1 was set to Unknown
Mendeliome v0.0 TLL1 Zornitza Stark gene: TLL1 was added
gene: TLL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLL1 was set to Unknown
Mendeliome v0.0 TLK2 Zornitza Stark gene: TLK2 was added
gene: TLK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TLK2 was set to Unknown
Mendeliome v0.0 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TKT was set to Unknown
Mendeliome v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TK2 was set to Unknown
Mendeliome v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TJP2 was set to Unknown
Mendeliome v0.0 TIRAP Zornitza Stark gene: TIRAP was added
gene: TIRAP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIRAP was set to Unknown
Mendeliome v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TINF2 was set to Unknown
Mendeliome v0.0 TIMP3 Zornitza Stark gene: TIMP3 was added
gene: TIMP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMP3 was set to Unknown
Mendeliome v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM8A was set to Unknown
Mendeliome v0.0 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM50 was set to Unknown
Mendeliome v0.0 TIMM44 Zornitza Stark gene: TIMM44 was added
gene: TIMM44 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM44 was set to Unknown
Mendeliome v0.0 TICAM1 Zornitza Stark gene: TICAM1 was added
gene: TICAM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TICAM1 was set to Unknown
Mendeliome v0.0 TIA1 Zornitza Stark gene: TIA1 was added
gene: TIA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIA1 was set to Unknown
Mendeliome v0.0 THSD1 Zornitza Stark gene: THSD1 was added
gene: THSD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THSD1 was set to Unknown
Mendeliome v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THRB was set to Unknown
Mendeliome v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THRA was set to Unknown
Mendeliome v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THPO was set to Unknown
Mendeliome v0.0 THOC6 Zornitza Stark gene: THOC6 was added
gene: THOC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THOC6 was set to Unknown
Mendeliome v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THOC2 was set to Unknown
Mendeliome v0.0 THBS2 Zornitza Stark gene: THBS2 was added
gene: THBS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THBS2 was set to Unknown
Mendeliome v0.0 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THBD was set to Unknown
Mendeliome v0.0 THAP1 Zornitza Stark gene: THAP1 was added
gene: THAP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THAP1 was set to Unknown
Mendeliome v0.0 TGM6 Zornitza Stark gene: TGM6 was added
gene: TGM6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM6 was set to Unknown
Mendeliome v0.0 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM5 was set to Unknown
Mendeliome v0.0 TGM3 Zornitza Stark gene: TGM3 was added
gene: TGM3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM3 was set to Unknown
Mendeliome v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM1 was set to Unknown
Mendeliome v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGIF1 was set to Unknown
Mendeliome v0.0 TGFBI Zornitza Stark gene: TGFBI was added
gene: TGFBI was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBI was set to Unknown
Mendeliome v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB3 was set to Unknown
Mendeliome v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB2 was set to Unknown
Mendeliome v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB1 was set to Unknown
Mendeliome v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGDS was set to Unknown
Mendeliome v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TG was set to Unknown
Mendeliome v0.0 TFRC Zornitza Stark gene: TFRC was added
gene: TFRC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFRC was set to Unknown
Mendeliome v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFR2 was set to Unknown
Mendeliome v0.0 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFG was set to Unknown
Mendeliome v0.0 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFE3 was set to Unknown
Mendeliome v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2B was set to Unknown
Mendeliome v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to Unknown
Mendeliome v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TF was set to Unknown
Mendeliome v0.0 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TET2 was set to Unknown
Mendeliome v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERT was set to Unknown
Mendeliome v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERC was set to Unknown
Mendeliome v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM46A was set to Unknown
Mendeliome v0.0 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TENM3 was set to Unknown
Mendeliome v0.0 TENM1 Zornitza Stark gene: TENM1 was added
gene: TENM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TENM1 was set to Unknown
Mendeliome v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TELO2 was set to Unknown
Mendeliome v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TEK was set to Unknown
Mendeliome v0.0 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TECTA was set to Unknown
Mendeliome v0.0 TECR Zornitza Stark gene: TECR was added
gene: TECR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TECR was set to Unknown
Mendeliome v0.0 TECPR2 Zornitza Stark gene: TECPR2 was added
gene: TECPR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TECPR2 was set to Unknown
Mendeliome v0.0 TEAD1 Zornitza Stark gene: TEAD1 was added
gene: TEAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TEAD1 was set to Unknown
Mendeliome v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDRD7 was set to Unknown
Mendeliome v0.0 TDP1 Zornitza Stark gene: TDP1 was added
gene: TDP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDP1 was set to Unknown
Mendeliome v0.0 TDGF1 Zornitza Stark gene: TDGF1 was added
gene: TDGF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDGF1 was set to Unknown
Mendeliome v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN3 was set to Unknown
Mendeliome v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN2 was set to Unknown