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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
Brain Calcification v0.4 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.4 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.3 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Brain calcification_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
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
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Marked gene: FAM160B1 as ready
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Gene: fam160b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090 to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1585 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Gene: clcnka has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Intellectual disability syndromic and non-syndromic v0.1583 CLCNKB Zornitza Stark Mode of inheritance for gene: CLCNKB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Marked gene: COASY as ready
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Gene: coasy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Other to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1580 COASY Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1580 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Marked gene: COG6 as ready
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Publications for gene: COASY were set to 24360804; 30089828
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Publications for gene: COASY were set to
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1577 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Intellectual disability syndromic and non-syndromic v0.1575 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Marked gene: ETFA as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1573 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Intellectual disability syndromic and non-syndromic v0.1572 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Marked gene: MED17 as ready
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Intellectual disability syndromic and non-syndromic v0.1570 MED17 Zornitza Stark Publications for gene: MED17 were set to
Intellectual disability syndromic and non-syndromic v0.1569 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 18513682; 28857146
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1566 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
Intellectual disability syndromic and non-syndromic v0.1565 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Intellectual disability syndromic and non-syndromic v0.1564 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Marked gene: PIGG as ready
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1562 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1561 PIGG Zornitza Stark Publications for gene: PIGG were set to 26996948
Intellectual disability syndromic and non-syndromic v0.1560 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Publications for gene: PIGG were set to
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000
Intellectual disability syndromic and non-syndromic v0.1557 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Classified gene: SCN9A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Gene: sema3e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1551 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1550 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Intellectual disability syndromic and non-syndromic v0.1549 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Marked gene: SPART as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Marked gene: SVBP as ready
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Marked gene: TBCD as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1547 TBCD Zornitza Stark Publications for gene: TBCD were set to
Intellectual disability syndromic and non-syndromic v0.1546 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Marked gene: TERT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Marked gene: TKT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
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
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Marked gene: XPA as ready
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Autism v0.36 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from to None
Intellectual disability syndromic and non-syndromic v0.1544 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
Intellectual disability syndromic and non-syndromic v0.1543 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Intellectual disability syndromic and non-syndromic v0.1542 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.785 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
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
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Congenital Disorders of Glycosylation v0.7 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.
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
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).
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.6 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Congenital Disorders of Glycosylation v0.5 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
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
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Marked gene: SNRPN as ready
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Tag SV/CNV tag was added to gene: SNRPN.
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Classified gene: TCTN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
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
Brain Calcification v0.2 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Brain Calcification v0.2 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.38 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Marked gene: TEMN3-AS1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Classified gene: TEMN3-AS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.36 TEMN3-AS1 Zornitza Stark gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to 27103084; 30513139; 30513139; 22766609
Phenotypes for gene: TEMN3-AS1 were set to Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to GREEN
Added comment: Three families with syndromic microphthalmia and one family with non-syndromic microphthalmia reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Marked gene: TUFM as ready
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
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).
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.2 KIAA1161 Chirag Patel Classified gene: KIAA1161 as Green List (high evidence)
Brain Calcification v0.2 KIAA1161 Chirag Patel Gene: kiaa1161 has been classified as Green List (High Evidence).
Brain Calcification v0.1 KIAA1161 Chirag Patel gene: KIAA1161 was added
gene: KIAA1161 was added to Brain calcification_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PubMed: 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 v0.774 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
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
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Marked gene: KLLN as ready
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).
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Marked gene: KLLN as ready
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.0 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392
Ectodermal Dysplasia v0.0 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Ectodermal Dysplasia v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT74 were set to 24714551
Phenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929
Ectodermal Dysplasia v0.0 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal Dysplasia v0.0 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301
Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Ectodermal Dysplasia v0.0 MSX1 Bryony Thompson gene: MSX1 was added
gene: MSX1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500
Ectodermal Dysplasia v0.0 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDF1 were set to 30977908; 27838789; 24075906
Phenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal Dysplasia v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
Ectodermal Dysplasia v0.0 WDR35 Bryony Thompson gene: WDR35 was added
gene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Ectodermal Dysplasia v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Ectodermal Dysplasia v0.0 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Ectodermal Dysplasia v0.0 NECTIN4 Bryony Thompson gene: NECTIN4 was added
gene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1
Ectodermal Dysplasia v0.0 PRKD1 Bryony Thompson gene: PRKD1 was added
gene: PRKD1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia
Ectodermal Dysplasia v0.0 PORCN Bryony Thompson gene: PORCN was added
gene: PORCN was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Ectodermal Dysplasia v0.0 PAX9 Bryony Thompson gene: PAX9 was added
gene: PAX9 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to Tooth agenesis, selective, 3
Ectodermal Dysplasia v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive
Ectodermal Dysplasia v0.0 LRP6 Bryony Thompson gene: LRP6 was added
gene: LRP6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7
Ectodermal Dysplasia v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia, Naxos disease
Ectodermal Dysplasia v0.0 IFT122 Bryony Thompson gene: IFT122 was added
gene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
Ectodermal Dysplasia v0.0 HR Bryony Thompson gene: HR was added
gene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita
Ectodermal Dysplasia v0.0 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9
Ectodermal Dysplasia v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB6 were set to Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Ectodermal Dysplasia v0.0 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Ectodermal Dysplasia v0.0 EVC2 Bryony Thompson gene: EVC2 was added
gene: EVC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, Weyers acrodental dysostosis
Ectodermal Dysplasia v0.0 EVC Bryony Thompson gene: EVC was added
gene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome
Ectodermal Dysplasia v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2
Ectodermal Dysplasia v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal Dysplasia v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Ectodermal Dysplasia v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Ectodermal Dysplasia v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Ectodermal Dysplasia v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1
Ectodermal Dysplasia v0.0 Bryony Thompson Added panel Ectodermal Dysplasia_RMH
Gastrointestinal neuromuscular disease v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Gastrointestinal neuromuscular disease v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 SGO1 Bryony Thompson gene: SGO1 was added
gene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201
Gastrointestinal neuromuscular disease v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623
Gastrointestinal neuromuscular disease v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD21 were set to Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
Gastrointestinal neuromuscular disease v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Gastrointestinal neuromuscular disease v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Phenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900
Gastrointestinal neuromuscular disease v0.0 LMOD1 Bryony Thompson gene: LMOD1 was added
gene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD1 were set to 28292896
Phenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome
Gastrointestinal neuromuscular disease v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females
Gastrointestinal neuromuscular disease v0.0 EDNRB Bryony Thompson gene: EDNRB was added
gene: EDNRB was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 EDN3 Bryony Thompson gene: EDN3 was added
gene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 CHRM3 Bryony Thompson gene: CHRM3 was added
gene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.0 ACTG2 Bryony Thompson gene: ACTG2 was added
gene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were set to Visceral myopathy, 155310
Gastrointestinal neuromuscular disease v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.0 Bryony Thompson Added panel Visceral Myopathy_RMH
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Marked gene: MET as ready
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Marked gene: MGP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Marked gene: MID2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Marked gene: MPZ as ready
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Marked gene: MRAP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Gene: mrap has been classified as Red List (Low Evidence).
Usher Syndrome v0.0 WHRN Bryony Thompson gene: WHRN was added
gene: WHRN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383
Usher Syndrome v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809
Usher Syndrome v0.0 USH1G Bryony Thompson gene: USH1G was added
gene: USH1G was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943
Usher Syndrome v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904
Usher Syndrome v0.0 PEX6 Bryony Thompson gene: PEX6 was added
gene: PEX6 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Heimler syndrome 2, 616617
Usher Syndrome v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580
Usher Syndrome v0.0 PDZD7 Bryony Thompson gene: PDZD7 was added
gene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Usher Syndrome v0.0 PCDH15 Bryony Thompson gene: PCDH15 was added
gene: PCDH15 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome Type 1F; Usher syndrome, type 1D/F digenic
Usher Syndrome v0.0 MYO7A Bryony Thompson gene: MYO7A was added
gene: MYO7A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900
Usher Syndrome v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Usher Syndrome v0.0 ESPN Bryony Thompson gene: ESPN was added
gene: ESPN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESPN were set to ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006
Usher Syndrome v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180
Usher Syndrome v0.0 CIB2 Bryony Thompson gene: CIB2 was added
gene: CIB2 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869
Usher Syndrome v0.0 CEP78 Bryony Thompson gene: CEP78 was added
gene: CEP78 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss, 617236
Usher Syndrome v0.0 CEP250 Bryony Thompson gene: CEP250 was added
gene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358
Usher Syndrome v0.0 CDH23 Bryony Thompson gene: CDH23 was added
gene: CDH23 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D 601067; Usher syndrome, type 1D/F digenic 601067
Usher Syndrome v0.0 ARSG Bryony Thompson gene: ARSG was added
gene: ARSG was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144
Usher Syndrome v0.0 ADGRV1 Bryony Thompson gene: ADGRV1 was added
gene: ADGRV1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Usher Syndrome v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857; Usher syndrome type 3
Usher Syndrome v0.0 Bryony Thompson Added panel Usher Syndrome_RMH
Rhabdomyolysis and Metabolic Myopathy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Rhabdomyolysis and Metabolic Myopathy v0.0 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470
Rhabdomyolysis and Metabolic Myopathy v0.0 TK2 Bryony Thompson gene: TK2 was added
gene: TK2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Rhabdomyolysis and Metabolic Myopathy v0.0 TANGO2 Bryony Thompson gene: TANGO2 was added
gene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Rhabdomyolysis and Metabolic Myopathy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140
Rhabdomyolysis and Metabolic Myopathy v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800
Rhabdomyolysis and Metabolic Myopathy v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500
Rhabdomyolysis and Metabolic Myopathy v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320
Rhabdomyolysis and Metabolic Myopathy v0.0 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Rhabdomyolysis and Metabolic Myopathy v0.0 RBCK1 Bryony Thompson gene: RBCK1 was added
gene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Rhabdomyolysis and Metabolic Myopathy v0.0 PYGM Bryony Thompson gene: PYGM was added
gene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR
Rhabdomyolysis and Metabolic Myopathy v0.0 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKB Bryony Thompson gene: PHKB was added
gene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKA1 Bryony Thompson gene: PHKA1 was added
gene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559
Rhabdomyolysis and Metabolic Myopathy v0.0 PGM1 Bryony Thompson gene: PGM1 was added
gene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921
Rhabdomyolysis and Metabolic Myopathy v0.0 PGK1 Bryony Thompson gene: PGK1 was added
gene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653
Rhabdomyolysis and Metabolic Myopathy v0.0 PGAM2 Bryony Thompson gene: PGAM2 was added
gene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670
Rhabdomyolysis and Metabolic Myopathy v0.0 PFKM Bryony Thompson gene: PFKM was added
gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800
Rhabdomyolysis and Metabolic Myopathy v0.0 LPIN1 Bryony Thompson gene: LPIN1 was added
gene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200
Rhabdomyolysis and Metabolic Myopathy v0.0 LDHA Bryony Thompson gene: LDHA was added
gene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933
Rhabdomyolysis and Metabolic Myopathy v0.0 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Rhabdomyolysis and Metabolic Myopathy v0.0 ISCU Bryony Thompson gene: ISCU was added
gene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 GYS1 Bryony Thompson gene: GYS1 was added
gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556
Rhabdomyolysis and Metabolic Myopathy v0.0 GYG1 Bryony Thompson gene: GYG1 was added
gene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Rhabdomyolysis and Metabolic Myopathy v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500
Rhabdomyolysis and Metabolic Myopathy v0.0 GAA Bryony Thompson gene: GAA was added
gene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Rhabdomyolysis and Metabolic Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama congenital muscular dystrophy
Rhabdomyolysis and Metabolic Myopathy v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ENO3 Bryony Thompson gene: ENO3 was added
gene: ENO3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII 612932
Rhabdomyolysis and Metabolic Myopathy v0.0 DYSF Bryony Thompson gene: DYSF was added
gene: DYSF was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130
Rhabdomyolysis and Metabolic Myopathy v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Becker muscular dystrophy 300376
Rhabdomyolysis and Metabolic Myopathy v0.0 CYP2C8 Bryony Thompson gene: CYP2C8 was added
gene: CYP2C8 was added to Rhabdomyolysis_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CYP2C8 was set to Unknown
Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced
Rhabdomyolysis and Metabolic Myopathy v0.0 CPT2 Bryony Thompson gene: CPT2 was added
gene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Rhabdomyolysis and Metabolic Myopathy v0.0 CAV3 Bryony Thompson gene: CAV3 was added
gene: CAV3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC 607801; Rippling muscle disease 606072; Myopathy, distal, Tateyama type 614321
Rhabdomyolysis and Metabolic Myopathy v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887
Rhabdomyolysis and Metabolic Myopathy v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307
Rhabdomyolysis and Metabolic Myopathy v0.0 AMPD1 Bryony Thompson gene: AMPD1 was added
gene: AMPD1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency 615511; Rhabdomyolysis
Rhabdomyolysis and Metabolic Myopathy v0.0 ALDOA Bryony Thompson gene: ALDOA was added
gene: ALDOA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881
Rhabdomyolysis and Metabolic Myopathy v0.0 AGL Bryony Thompson gene: AGL was added
gene: AGL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400
Rhabdomyolysis and Metabolic Myopathy v0.0 ACADVL Bryony Thompson gene: ACADVL was added
gene: ACADVL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Rhabdomyolysis and Metabolic Myopathy v0.0 ACADM Bryony Thompson gene: ACADM was added
gene: ACADM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450; Rhabdomyolysis
Rhabdomyolysis and Metabolic Myopathy v0.0 ACAD9 Bryony Thompson gene: ACAD9 was added
gene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Rhabdomyolysis and Metabolic Myopathy v0.0 Bryony Thompson Added panel Rhabdomyolysis_RMH
Proteinuria v0.98 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Proteinuria v0.98 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.98 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Proteinuria v0.98 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Marked gene: ANLN as ready
Proteinuria v0.98 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.97 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.96 ANLN Zornitza Stark Publications for gene: ANLN were set to
Proteinuria v0.95 ANLN Zornitza Stark Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.94 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Proteinuria v0.94 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.94 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.93 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.92 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Proteinuria v0.91 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Congenital Myasthenia v0.0 UNC13A Bryony Thompson gene: UNC13A was added
gene: UNC13A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 19558619; 27648472
Phenotypes for gene: UNC13A were set to microcephaly, cortical hyperexcitability, and fatal myasthenia
Congenital Myasthenia v0.0 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, 616040
Congenital Myasthenia v0.0 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330
Congenital Myasthenia v0.0 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy
Congenital Myasthenia v0.0 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197
Congenital Myasthenia v0.0 SLC18A3 Bryony Thompson gene: SLC18A3 was added
gene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239
Congenital Myasthenia v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Myasthenic syndrome, congenital, 16, 614198
Congenital Myasthenia v0.0 RPH3A Bryony Thompson gene: RPH3A was added
gene: RPH3A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPH3A were set to 29441694
Phenotypes for gene: RPH3A were set to Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
Congenital Myasthenia v0.0 RAPSN Bryony Thompson gene: RAPSN was added
gene: RAPSN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset
Congenital Myasthenia v0.0 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224
Congenital Myasthenia v0.0 MYO9A Bryony Thompson gene: MYO9A was added
gene: MYO9A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome 24, presynaptic 618198
Congenital Myasthenia v0.0 MUSK Bryony Thompson gene: MUSK was added
gene: MUSK was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Congenital Myasthenia v0.0 LRP4 Bryony Thompson gene: LRP4 was added
gene: LRP4 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304
Congenital Myasthenia v0.0 LAMB2 Bryony Thompson gene: LAMB2 was added
gene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Congenital Myasthenia v0.0 LAMA5 Bryony Thompson gene: LAMA5 was added
gene: LAMA5 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 28544784
Phenotypes for gene: LAMA5 were set to muscle weakness, myopia, and facial tics
Congenital Myasthenia v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Congenital Myasthenia v0.0 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome
Congenital Myasthenia v0.0 DPAGT1 Bryony Thompson gene: DPAGT1 was added
gene: DPAGT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; Congenital disorder of glycosylation, type Ij, 608093
Congenital Myasthenia v0.0 DOK7 Bryony Thompson gene: DOK7 was added
gene: DOK7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial
Congenital Myasthenia v0.0 COLQ Bryony Thompson gene: COLQ was added
gene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Congenital Myasthenia v0.0 COL13A1 Bryony Thompson gene: COL13A1 was added
gene: COL13A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, 616720
Congenital Myasthenia v0.0 CHRNG Bryony Thompson gene: CHRNG was added
gene: CHRNG was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient
Congenital Myasthenia v0.0 CHRNE Bryony Thompson gene: CHRNE was added
gene: CHRNE was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital Myasthenia v0.0 CHRND Bryony Thompson gene: CHRND was added
gene: CHRND was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
Congenital Myasthenia v0.0 CHRNB1 Bryony Thompson gene: CHRNB1 was added
gene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Congenital Myasthenia v0.0 CHRNA1 Bryony Thompson gene: CHRNA1 was added
gene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Congenital Myasthenia v0.0 CHAT Bryony Thompson gene: CHAT was added
gene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210
Congenital Myasthenia v0.0 ALG2 Bryony Thompson gene: ALG2 was added
gene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Congenital Myasthenia v0.0 ALG14 Bryony Thompson gene: ALG14 was added
gene: ALG14 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Congenital Myasthenia v0.0 AGRN Bryony Thompson gene: AGRN was added
gene: AGRN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Congenital Myasthenia v0.0 Bryony Thompson Added panel Congenital Myaesthenic Syndrome_RMH
Heterotaxy v0.3 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Heterotaxy v0.3 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Heterotaxy v0.3 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Heterotaxy v0.2 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Heterotaxy v0.1 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.5 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Ciliary Dyskinesia v0.4 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Ciliary Dyskinesia v0.3 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.0 UROS Bryony Thompson gene: UROS was added
gene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700
Haem degradation and bilirubin metabolism defects v0.0 UROD Bryony Thompson gene: UROD was added
gene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Haem degradation and bilirubin metabolism defects v0.0 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200
Haem degradation and bilirubin metabolism defects v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Haem degradation and bilirubin metabolism defects v0.0 HFE Bryony Thompson gene: HFE was added
gene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200
Haem degradation and bilirubin metabolism defects v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 25251786; 17148589
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Haem degradation and bilirubin metabolism defects v0.0 FECH Bryony Thompson gene: FECH was added
gene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000
Haem degradation and bilirubin metabolism defects v0.0 CPOX Bryony Thompson gene: CPOX was added
gene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300
Haem degradation and bilirubin metabolism defects v0.0 ALAS2 Bryony Thompson gene: ALAS2 was added
gene: ALAS2 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751
Haem degradation and bilirubin metabolism defects v0.0 ALAD Bryony Thompson gene: ALAD was added
gene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Haem degradation and bilirubin metabolism defects v0.0 Bryony Thompson Added panel Porphyria_RMH
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Marked gene: ZMYND10 as ready
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Added comment: Comment when marking as ready: More than 10 Families with hom and comp het variants and PCD
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Gene: zmynd10 has been classified as Green List (High Evidence).
Mendeliome v0.771 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.55 NR2E1 Zornitza Stark Marked gene: NR2E1 as ready
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.55 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.54 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Marked gene: OTOG as ready
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Publications for gene: OTOG were set to
Deafness_IsolatedAndComplex v0.228 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B, MIM#614945
Deafness_IsolatedAndComplex v0.227 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 29800624; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRAPPC11 Bryony Thompson gene: TRAPPC11 was added
gene: TRAPPC11 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TNPO3 Bryony Thompson gene: TNPO3 was added
gene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TCAP Bryony Thompson gene: TCAP was added
gene: TCAP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SYNE1 Bryony Thompson gene: SYNE1 was added
gene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCG Bryony Thompson gene: SGCG was added
gene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCD Bryony Thompson gene: SGCD was added
gene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCB Bryony Thompson gene: SGCB was added
gene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCA Bryony Thompson gene: SGCA was added
gene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PYROXD1 Bryony Thompson gene: PYROXD1 was added
gene: PYROXD1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 30515627
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT2 Bryony Thompson gene: POMT2 was added
gene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT1 Bryony Thompson gene: POMT1 was added
gene: POMT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMK Bryony Thompson gene: POMK was added
gene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT2 Bryony Thompson gene: POMGNT2 was added
gene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POGLUT1 Bryony Thompson gene: POGLUT1 was added
gene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PLEC Bryony Thompson gene: PLEC was added
gene: PLEC was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Muscular dystrophy with epidermolysis bullosa simplex, 226670
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 MTM1 Bryony Thompson gene: MTM1 was added
gene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 LAMA2 Bryony Thompson gene: LAMA2 was added
gene: LAMA2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ISPD Bryony Thompson gene: ISPD was added
gene: ISPD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 HNRNPDL Bryony Thompson gene: HNRNPDL was added
gene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FHL1 Bryony Thompson gene: FHL1 was added
gene: FHL1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 EMD Bryony Thompson gene: EMD was added
gene: EMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DYSF Bryony Thompson gene: DYSF was added
gene: DYSF was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, type 2B, 253601
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DNAJB6 Bryony Thompson gene: DNAJB6 was added
gene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DAG1 Bryony Thompson gene: DAG1 was added
gene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A2 Bryony Thompson gene: COL6A2 was added
gene: COL6A2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A1 Bryony Thompson gene: COL6A1 was added
gene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 CAPN3 Bryony Thompson gene: CAPN3 was added
gene: CAPN3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 Bryony Thompson Added panel Limb Girdle Muscular Dystrophy_RMH
Hereditary Neuropathy v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Hereditary Neuropathy v0.0 MFF Bryony Thompson gene: MFF was added
gene: MFF was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus)
Hereditary Neuropathy v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy v0.0 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
Hereditary Neuropathy v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATAD3A were set to Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy
Hereditary Neuropathy v0.0 NGLY1 Bryony Thompson gene: NGLY1 was added
gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy v0.0 SNAP29 Bryony Thompson gene: SNAP29 was added
gene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy v0.0 AMACR Bryony Thompson gene: AMACR was added
gene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
Hereditary Neuropathy v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALDH18A1 were set to Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities
Hereditary Neuropathy v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy
Hereditary Neuropathy v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Hereditary Neuropathy v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy
Hereditary Neuropathy v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Hereditary Neuropathy v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to HMSN; Spastic paraplegia 15
Hereditary Neuropathy v0.0 DNAJC3 Bryony Thompson gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
Hereditary Neuropathy v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
Hereditary Neuropathy v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary Neuropathy v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
Hereditary Neuropathy v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy v0.0 TRIP4 Bryony Thompson gene: TRIP4 was added
gene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1
Hereditary Neuropathy v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive; HSAN/SFN
Hereditary Neuropathy v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN
Hereditary Neuropathy v0.0 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like phenotype; dHMN/dSMA
Hereditary Neuropathy v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN
Hereditary Neuropathy v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 24627108
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN
Hereditary Neuropathy v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 21419568
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6
Hereditary Neuropathy v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 19409521
Phenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN
Hereditary Neuropathy v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA
Hereditary Neuropathy v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Hereditary Neuropathy v0.0 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type; HMSN
Hereditary Neuropathy v0.0 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Galactosylceramide beta-galactosidase deficiency; HMSN
Hereditary Neuropathy v0.0 EXOSC8 Bryony Thompson gene: EXOSC8 was added
gene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c
Hereditary Neuropathy v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA
Hereditary Neuropathy v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to HMSN; Cholestanol storage disease
Hereditary Neuropathy v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN
Hereditary Neuropathy v0.0 CLP1 Bryony Thompson gene: CLP1 was added
gene: CLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10; dHMN/dSMA
Hereditary Neuropathy v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary Neuropathy v0.0 ASCC1 Bryony Thompson gene: ASCC1 was added
gene: ASCC1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2
Hereditary Neuropathy v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA
Hereditary Neuropathy v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy
Hereditary Neuropathy v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease
Hereditary Neuropathy v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia
Hereditary Neuropathy v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary Neuropathy v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant; Spasticity; Hereditary Neuropathies
Hereditary Neuropathy v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy v0.0 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Hereditary Neuropathy v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia
Hereditary Neuropathy v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN
Hereditary Neuropathy v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI
Hereditary Neuropathy v0.0 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN
Hereditary Neuropathy v0.0 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN
Hereditary Neuropathy v0.0 NTRK1 Bryony Thompson gene: NTRK1 was added
gene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary Neuropathy v0.0 MYH14 Bryony Thompson gene: MYH14 was added
gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN
Hereditary Neuropathy v0.0 MCM3AP Bryony Thompson gene: MCM3AP was added
gene: MCM3AP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary Neuropathy v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500
Hereditary Neuropathy v0.0 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Hereditary Neuropathy v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015; HMSN
Hereditary Neuropathy v0.0 GJB3 Bryony Thompson gene: GJB3 was added
gene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GJB3 was set to
Phenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy
Hereditary Neuropathy v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Hereditary Neuropathy v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary Neuropathy v0.0 DCAF8 Bryony Thompson gene: DCAF8 was added
gene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN
Hereditary Neuropathy v0.0 CTDP1 Bryony Thompson gene: CTDP1 was added
gene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN
Hereditary Neuropathy v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary Neuropathy v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN
Hereditary Neuropathy v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN
Hereditary Neuropathy v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies
Hereditary Neuropathy v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN
Hereditary Neuropathy v0.0 XK Bryony Thompson gene: XK was added
gene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary Neuropathy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN
Hereditary Neuropathy v0.0 TUBB3 Bryony Thompson gene: TUBB3 was added
gene: TUBB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; HMSN
Hereditary Neuropathy v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy v0.0 SLC12A6 Bryony Thompson gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN
Hereditary Neuropathy v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type; HMSN
Hereditary Neuropathy v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Prion diseases
Hereditary Neuropathy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN
Hereditary Neuropathy v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN
Hereditary Neuropathy v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease
Hereditary Neuropathy v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1
Hereditary Neuropathy v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
Hereditary Neuropathy v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN
Hereditary Neuropathy v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN
Hereditary Neuropathy v0.0 Bryony Thompson Added panel Hereditary Neuropathy - complex_RMH
Hereditary Spastic Paraplegia v0.4 KLC2 Bryony Thompson Tag SV/CNV tag was added to gene: KLC2.
Immunological disorders_SuperPanel v0.101 Zornitza Stark Changed child panels to: Combined immunodeficiency_MelbourneGenomics_VCGS; Disorders of immune dysregulation_MelbourneGenomics_VCGS; Predominantly antibody deficiency_MelbourneGenomics_VCGS; Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS; Susceptibility to viral infections_MelbourneGenomics_VCGS; Neutrophil defects_MelbourneGenomics_VCGS; Complement deficiencies_MelbourneGenomics_VCGS; Phagocyte defects_MelbourneGenomics_VCGS; Common Variable Immunodeficiency_MelbourneGenomics_VCGS; Defects of innate immunity_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS; Susceptibility to fungal infections_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS; Mendelian susceptibility to Immune Disorders_MelbourneGenomics_VCGS; Hyper-IgE syndrome_MelbourneGenomics_VCGS; Hereditary angioedema_MelbourneGenomics_VCGS; Inflammatory bowel disease_VCGS
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Classified gene: RIPK1 as Green List (high evidence)
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.19 RIPK1 Zornitza Stark gene: RIPK1 was added
gene: RIPK1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316
Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108
Review for gene: RIPK1 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Classified gene: RASGRP1 as Green List (high evidence)
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.17 RASGRP1 Zornitza Stark gene: RASGRP1 was added
gene: RASGRP1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP1 were set to 29155103; 28822832; 17675473; 27776107; 29282224
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64, MIM#618534
Review for gene: RASGRP1 was set to GREEN
Added comment: At least four families reported; mouse model.
Sources: Expert list
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.8 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 29455859
Phenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia
Review for gene: OAS1 was set to GREEN
Added comment: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Congenital Heart Defect v0.4 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Congenital Heart Defect v0.4 MEF2C Zornitza Stark Gene: mef2c has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.4 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Congenital Heart Defect_VCGS. Sources: Expert list
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEF2C were set to 29104469; 22498567; 26811383
Phenotypes for gene: MEF2C were set to Congenital heart disease
Review for gene: MEF2C was set to RED
Added comment: Two families described and an animal model. This is very low level of evidence considering the prevalence of CHD.
Sources: Expert list
Congenital Heart Defect v0.3 IRX4 Zornitza Stark Marked gene: IRX4 as ready
Congenital Heart Defect v0.3 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.3 IRX4 Zornitza Stark gene: IRX4 was added
gene: IRX4 was added to Congenital Heart Defect_VCGS. Sources: Expert list
Mode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX4 were set to 21544582
Phenotypes for gene: IRX4 were set to Ventricular septal defect
Review for gene: IRX4 was set to RED
Added comment: Two individuals with novel missense variants identified in a large cohort in 2011.
Sources: Expert list
Ciliopathies v0.60 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.60 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.59 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Ciliopathies_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 plus functional data.
Sources: Expert list
Ciliopathies v0.58 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.58 C8orf37 Zornitza Stark Classified gene: C8orf37 as Green List (high evidence)
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.57 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863; 22177090; 25113443; 26865426; 25802487
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500
Review for gene: C8orf37 was set to GREEN
Added comment: Two individuals reported with BBS phenotype; at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy)
Sources: Expert list
Ciliopathies v0.56 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.56 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.55 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Ciliopathies v0.54 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Ciliopathies v0.54 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Ciliopathies v0.54 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Ciliopathies v0.53 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.52 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Ciliopathies v0.52 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.52 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Ciliopathies v0.51 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Ciliopathies v0.50 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.49 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Ciliopathies v0.49 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.47 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Bardet Biedl syndrome v0.17 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Bardet Biedl syndrome v0.16 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Bardet Biedl syndrome v0.15 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Classified gene: WDPCP as Red List (low evidence)
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.13 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.12 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.10 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well.
Sources: Expert list
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.8 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Microcephaly v0.69 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Genetic Epilepsy v0.180 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families and functional data.
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Mendeliome v0.770 MDH1 Zornitza Stark Marked gene: MDH1 as ready
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
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.9 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Hydrocephalus/Ventriculomegaly_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
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.768 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
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 Marked gene: AGMO as ready
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
Microcephaly v0.68 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Microcephaly v0.68 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Microcephaly v0.67 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Microcephaly v0.67 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Microcephaly v0.66 AGMO Sue White Marked gene: AGMO as ready
Microcephaly v0.66 AGMO Sue White Gene: agmo has been classified as Red List (Low Evidence).
Microcephaly v0.66 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Microcephaly_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 variants reported
Sources: Literature
Genetic Epilepsy v0.179 AGMO Sue White Marked gene: AGMO as ready
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.179 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.178 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Genetic Epilepsy_AustralianGenomics_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 variants reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1536 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 missense and LOF variants reported
Sources: Literature
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Marked gene: VWF as ready
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Gene: vwf has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480
Bleeding and Platelet Disorders v0.1 VWF Zornitza Stark Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.177 MDH1 Sue White Marked gene: MDH1 as ready
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.177 MDH1 Sue White Classified gene: MDH1 as Amber List (moderate evidence)
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.176 MDH1 Sue White gene: MDH1 was added
gene: MDH1 was added to Genetic Epilepsy_AustralianGenomics_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
Penetrance for gene: MDH1 were set to Complete
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID
Sources: Literature
Arthrogryposis v0.13 ISLR2 Sue White Marked gene: ISLR2 as ready
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.13 ISLR2 Sue White Classified gene: ISLR2 as Amber List (moderate evidence)
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.12 ISLR2 Sue White gene: ISLR2 was added
gene: ISLR2 was added to Arthrogryposis_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
Penetrance for gene: ISLR2 were set to Complete
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
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
Regression v0.59 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.59 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.58 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Regression_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 Incomplete
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Bleeding and Platelet Disorders v0.0 VWF Chern Lim changed review comment from: Loss of function variants have been reported in both dominant and recessive form of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually carries null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).; to: Loss of function variants have been reported in both dominant and recessive forms of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually associated with null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).
Bleeding and Platelet Disorders v0.0 VWF Chern Lim reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM#193400, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554, von Willibrand disease, type 3, MIM#277480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.762 RFC1 Sue White Marked gene: RFC1 as ready
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
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Marked gene: TRAC as ready
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.35 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Combined immunodeficiency_MelbourneGenomics_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
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.6 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM#614602
Review for gene: SKIV2L was set to GREEN
Added comment: Immunodeficiency is part of the phenotype.
Sources: Expert list
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.17 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
Review for gene: SAMD9 was set to GREEN
Added comment: Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections.
Sources: Expert list
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Classified gene: PMS2 as Green List (high evidence)
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.33 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, MIM# 276300
Review for gene: PMS2 was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Marked gene: PEPD as ready
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Classified gene: PEPD as Green List (high evidence)
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.15 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, MIM#170100
Review for gene: PEPD was set to GREEN
Added comment: Recurrent infections, SLE.
Sources: Expert list
Mendeliome v0.755 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
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
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.31 NSMCE3 Zornitza Stark gene: NSMCE3 was added
gene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE3 were set to 27427983
Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Review for gene: NSMCE3 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.30 NBN Zornitza Stark Marked gene: NBN as ready
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.30 NBN Zornitza Stark Classified gene: NBN as Green List (high evidence)
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.29 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
Review for gene: NBN was set to GREEN
Added comment: Immunodeficiency is a recognised feature.
Sources: Expert list
Mendeliome v0.751 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
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
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.15 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 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
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.27 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 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
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Marked gene: MSN as ready
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
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
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.5 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Marked gene: SALL2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Gene: sall2 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark gene: SALL2 was added
gene: SALL2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Other
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820
Review for gene: SALL2 was set to RED
Added comment: Single family reported, supportive functional data.
Sources: Other
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
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from to Mullegama-Klein-Martinez syndrome, MIM#301022
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1533 STAG2 Dean Phelan gene: STAG2 was added
gene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
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
Added comment: 12 unrelated families reported both males and females affected (OMIM).
Sources: Expert list
Retinitis pigmentosa v0.2 PLA2G5 Bryony Thompson Marked gene: PLA2G5 as ready
Retinitis pigmentosa v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.2 PLA2G5 Bryony Thompson Classified gene: PLA2G5 as Green List (high evidence)
Retinitis pigmentosa v0.2 PLA2G5 Bryony Thompson Added comment: Comment on list classification: Have features of RP
Retinitis pigmentosa v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.1 OAT Bryony Thompson Marked gene: OAT as ready
Retinitis pigmentosa v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.1 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Retinitis pigmentosa v0.1 OAT Bryony Thompson Added comment: Comment on list classification: Can have features of RP
Retinitis pigmentosa v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.7 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.35 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from Mental retardation with language impairment and with or without autistic features, MIM# 613670 to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.34 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Autism v0.34 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.6 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Autism v0.34 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Cerebellar and Pontocerebellar Hypoplasia v0.5 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.33 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Mendeliome v0.747 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Mendeliome v0.747 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Autism v0.33 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Autism v0.32 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.31 FOXP1 Zornitza Stark reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features, MIM# 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Mendeliome v0.746 IRF3 Zornitza Stark Publications for gene: IRF3 were set to
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Intellectual disability syndromic and non-syndromic v0.1532 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Intellectual disability syndromic and non-syndromic v0.1531 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.3 IRF3 Zornitza Stark gene: IRF3 was added
gene: IRF3 was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF3 were set to 26216125; 20660188; 26513235
Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Penetrance for gene: IRF3 were set to Incomplete
Review for gene: IRF3 was set to AMBER
Added comment: Two affected individuals reported, reduced penetrance, mouse model.
Sources: Expert list
Mendeliome v0.743 MESD Zornitza Stark Marked gene: MESD as ready
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).
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal Dysplasia_Fetal v0.11 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
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.10 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia Fetal_MelbourneGenomics_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 unrelated families reported.
Sources: Other
Skeletal dysplasia v0.5 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal dysplasia v0.5 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal dysplasia v0.4 MESD Zornitza Stark Gene: mesd has been classified as Red List (Low Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Marked gene: MESD as ready
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia. 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 unrelated families reported.
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1530 FOXP1 Michelle Torres reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26633542, PMID: 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.1 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Osteogenesis imperfecta_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 unrelated families reported.
Sources: Other
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Polymicrogyria and Schizencephaly v0.9 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Polymicrogyria and Schizencephaly v0.8 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1530 COASY Michelle Torres reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24360804, PMID: 30089828; Phenotypes: Neurodegeneration with brain iron accumulation 6 615643, Pontocerebellar hypoplasia, type 12 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.7 COL4A1 Michelle Torres reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23065703, PMID: 31719132; Phenotypes: 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD, 2. Brain small vessel disease with or without ocular anomalies, 175780, AD, 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD, 4. ?Retinal arteries, tortuosity of, 180000, AD, 5. {Hemorrhage, intracerebral, susceptibility to}, 614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported.
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.57 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Regression v0.57 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.57 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Genetic Epilepsy v0.174 NUP214 Zornitza Stark gene: NUP214 was added
gene: NUP214 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 30758658
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Regression v0.56 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Regression v0.55 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Regression v0.55 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Muscular dystrophy and myopathy_Paediatric v0.4 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Muscular dystrophy and myopathy_Paediatric v0.3 COL4A1 Zornitza Stark Mode of pathogenicity for gene: COL4A1 was changed from to Other
Mendeliome v0.741 EHHADH Zornitza Stark Marked gene: EHHADH as ready
Mendeliome v0.741 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.2 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Marked gene: VTN as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Added comment: Comment when marking as ready: Downgraded to Red after review against Genomics England panel.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome
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).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.19 VTN Zornitza Stark Publications for gene: VTN were set to
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
Atypical Haemolytic Uraemic Syndrome_MPGN v0.18 VTN Zornitza Stark Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Marked gene: ARHGAP24 as ready
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 Marked gene: CD2AP as ready
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 Marked gene: LAMA5 as ready
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).
Proteinuria v0.89 PODXL Zornitza Stark Marked gene: PODXL as ready
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Proteinuria v0.89 PODXL Zornitza Stark Classified gene: PODXL as Green List (high evidence)
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High 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).
Proteinuria v0.88 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Proteinuria v0.88 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Proteinuria v0.88 TPRKB Zornitza Stark Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, OMIM #617731
Proteinuria v0.87 TPRKB Zornitza Stark Publications for gene: TPRKB were set to
Proteinuria v0.86 TPRKB Zornitza Stark Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Classified gene: FOXC2 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Classified gene: LAMB2 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.1 COL4A1 Chern Lim reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23065703, 20818663; Phenotypes: ?Retinal arteries, tortuosity of MIM#180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.17 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH
Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 THBD Chirag Patel Classified gene: THBD as Amber List (moderate evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 THBD Chirag Patel Gene: thbd has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 THBD Chirag Patel reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, OMIM #612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 VTN Zornitza Stark Classified gene: VTN as Red List (low evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Classified gene: CFHR2 as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 CFHR2 Zornitza Stark gene: CFHR2 was added
gene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list
Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFHR2 were set to 24334459; 23728178; 20800271
Phenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Review for gene: CFHR2 was set to GREEN
Added comment: Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459.
Sources: Expert list
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 CFHR5 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 ADAMTS13 Chirag Patel Classified gene: ADAMTS13 as Amber List (moderate evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 ADAMTS13 Chirag Patel Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 ADAMTS13 Chirag Patel reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, familial, OMIM #274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 TPRKB Chirag Patel reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, OMIM #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Proteinuria v0.85 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.83 TNS2 Zornitza Stark gene: TNS2 was added
gene: TNS2 was added to Proteinuria_VCGS_KidGen. 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
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.79 LAMA5 Chirag Patel reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Eye Anterior Segment Abnormalities v0.0 JAG1 Chris Richmond gene: JAG1 was added
gene: JAG1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 21730847; 10051485; 18097983; 9951486
Phenotypes for gene: JAG1 were set to Alagille syndrome 118450
Penetrance for gene: JAG1 were set to Complete
Review for gene: JAG1 was set to GREEN
Added comment: From PMID 21730847: "Ocular anomalies are seen in 78-95% of patients, primarily posterior embryotoxon, although other ASDs such as iris hypoplasia and small corneal diameters are also common and irido-corneal synechiae and corectopia have been occasionally reported (PMIDs 10051485, 18097983, 9951486)"
Sources: Literature
Proteinuria v0.79 KANK1 Chirag Patel Classified gene: KANK1 as Red List (low evidence)
Proteinuria v0.79 KANK1 Chirag Patel Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.79 KANK4 Chirag Patel Classified gene: KANK4 as Red List (low evidence)
Proteinuria v0.79 KANK4 Chirag Patel Gene: kank4 has been classified as Red List (Low Evidence).
Proteinuria v0.78 KANK1 Chirag Patel reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 KANK4 Chirag Patel reviewed gene: KANK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.0 LAMB2 Chris Richmond gene: LAMB2 was added
gene: LAMB2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 21730847; 18672223; 15367484; 20556798
Phenotypes for gene: LAMB2 were set to Pierson syndrome 609049
Penetrance for gene: LAMB2 were set to Complete
Review for gene: LAMB2 was set to GREEN
Added comment: From PMID 21730847 review: "The primary ocular feature is miosis. Other eye defects that are occasionally observed include iris hypoplasia, ectropion uveae, microcornea, glaucoma, cataract, posterior embryotoxon, microphthalmia, posterior lenticonus, microspherophakia, cloudy or enlarged corneas, and generalized anterior segment dysgenesis (PMID 18672223). The full spectrum of mutations and associated phenotypes was recently reviewed (PMID 20556798). The majority of mutations are truncating; while missense mutations are typically associated with later onset of renal disease and lack of neurologic abnormalities, phenotypic variability is not perfectly correlated to LAMB2 genotype"
Sources: Literature
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.76 ITSN1 Chirag Patel gene: ITSN1 was added
gene: ITSN1 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITSN1 were set to PMID: 29773874
Phenotypes for gene: ITSN1 were set to Early childhood SSNS
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Literature
Eye Anterior Segment Abnormalities v0.0 COL4A1 Chris Richmond gene: COL4A1 was added
gene: COL4A1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 21730847; 16598045; 16107487; 20385946
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 175780; Microangiopathy and leukoencephalopathy, pontine 618564
Penetrance for gene: COL4A1 were set to unknown
Review for gene: COL4A1 was set to GREEN
Added comment: PMID 21730847: "Anterior segment ocular anomalies (Table 2) including early-onset cataract, ARA, corneal opacities, congenital cataract, microcornea, elevated intraocular pressure, and/or
glaucoma"
Sources: Literature
Proteinuria v0.75 CD2AP Chirag Patel Classified gene: CD2AP as Amber List (moderate evidence)
Proteinuria v0.75 CD2AP Chirag Patel Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.74 CD2AP Chirag Patel reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.0 FOXC2 Chris Richmond gene: FOXC2 was added
gene: FOXC2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 12766066; 21730847
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome 153400
Penetrance for gene: FOXC2 were set to unknown
Review for gene: FOXC2 was set to GREEN
Added comment: Ocular examination of patients with lymphedema-distichiasis syndrome and mutations in FOXC2, another member of the forkhead family, identified mild ASD, including partial iris hypoplasia, corectopia, reduced corneal diameter, and localized corneal opacification, in those with mutations within the forkhead domain (PMID: 21730847). No subsequent studies have investigated the role of FOXC2 in anterior segment dysgenesis.
Sources: Literature
Proteinuria v0.74 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to 21911940
Proteinuria v0.73 ARHGAP24 Zornitza Stark Marked gene: ARHGAP24 as ready
Proteinuria v0.73 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.73 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Proteinuria v0.72 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Proteinuria v0.71 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.70 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Proteinuria v0.70 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.69 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
Proteinuria v0.69 APOL1 Chirag Patel Classified gene: APOL1 as Red List (low evidence)
Proteinuria v0.69 APOL1 Chirag Patel Gene: apol1 has been classified as Red List (Low Evidence).
Proteinuria v0.68 APOL1 Chirag Patel reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.67 ANLN Chirag Patel reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, adult-onset type II, MIM#603471; Citrullinemia, type II, neonatal-onset, MIM#605814
Familial hypercholesterolaemia v0.4 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.3 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence)
Familial hypercholesterolaemia v0.3 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Familial hypercholesterolaemia v0.2 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, adult-onset type II, MIM#603471, Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Marked gene: LPL as ready
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250
Familial hypercholesterolaemia v0.1 LPL Zornitza Stark Mode of inheritance for gene: LPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.0 LPL Zornitza Stark reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A13 was set to Unknown
Familial hypercholesterolaemia v0.0 PCSK9 Zornitza Stark gene: PCSK9 was added
gene: PCSK9 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCSK9 was set to Unknown
Familial hypercholesterolaemia v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LPL was set to Unknown
Familial hypercholesterolaemia v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPA was set to Unknown
Familial hypercholesterolaemia v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDLRAP1 was set to Unknown
Familial hypercholesterolaemia v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDLR was set to Unknown
Familial hypercholesterolaemia v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27A1 was set to Unknown
Familial hypercholesterolaemia v0.0 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOE was set to Unknown
Familial hypercholesterolaemia v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOB was set to Unknown
Familial hypercholesterolaemia v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG8 was set to Unknown
Familial hypercholesterolaemia v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG5 was set to Unknown
Familial hypercholesterolaemia v0.0 Zornitza Stark Added panel Familial hypercholesterolaemia_VCGS
Ciliary Dyskinesia v0.2 ZMYND10 Chern Lim reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22, MIM#615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.0 PCSK9 Bryony Thompson gene: PCSK9 was added
gene: PCSK9 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LPL Bryony Thompson gene: LPL was added
gene: LPL was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Dyslipidaemia v0.0 LMF1 Bryony Thompson gene: LMF1 was added
gene: LMF1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Combined lipase deficiency
Dyslipidaemia v0.0 LIPA Bryony Thompson gene: LIPA was added
gene: LIPA was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease
Dyslipidaemia v0.0 LDLRAP1 Bryony Thompson gene: LDLRAP1 was added
gene: LDLRAP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LDLR Bryony Thompson gene: LDLR was added
gene: LDLR was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Dyslipidaemia v0.0 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID
Dyslipidaemia v0.0 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREB3L3 were set to Hypertriglyceridaemia
Dyslipidaemia v0.0 APOE Bryony Thompson gene: APOE was added
gene: APOE was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Dyslipidaemia v0.0 APOC3 Bryony Thompson gene: APOC3 was added
gene: APOC3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APOC3 were set to Apolipoprotein C-III deficiency
Dyslipidaemia v0.0 APOC2 Bryony Thompson gene: APOC2 was added
gene: APOC2 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib
Dyslipidaemia v0.0 APOB Bryony Thompson gene: APOB was added
gene: APOB was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia
Dyslipidaemia v0.0 APOA5 Bryony Thompson gene: APOA5 was added
gene: APOA5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia
Dyslipidaemia v0.0 APOA1 Bryony Thompson gene: APOA1 was added
gene: APOA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA1 were set to Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia
Dyslipidaemia v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Dyslipidaemia v0.0 ABCG8 Bryony Thompson gene: ABCG8 was added
gene: ABCG8 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCG5 Bryony Thompson gene: ABCG5 was added
gene: ABCG5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia
Dyslipidaemia v0.0 Bryony Thompson Added panel Hyperlipidaemia_RMH
Proteinuria v0.67 DLC1 Zornitza Stark Marked gene: DLC1 as ready
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.67 DLC1 Zornitza Stark Classified gene: DLC1 as Green List (high evidence)
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.66 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLC1 were set to 29773874
Phenotypes for gene: DLC1 were set to Neprhotic syndrome
Review for gene: DLC1 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.25 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
Added comment: Neutropaenia is a feature of this metabolic condition.
Sources: Expert list
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Marked gene: HELLS as ready
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.23 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HELLS were set to 26216346
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911
Review for gene: HELLS was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Expert list
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Marked gene: GINS1 as ready
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Classified gene: GINS1 as Green List (high evidence)
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.21 GINS1 Zornitza Stark gene: GINS1 was added
gene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS1 were set to 28414293
Phenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827
Review for gene: GINS1 was set to GREEN
Added comment: IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Phagocyte Defects v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Phagocyte Defects v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Phagocyte defects_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Neutrophil leukocytosis
Sources: Expert list
Progressive Myoclonic Epilepsy v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Progressive Myoclonic Epilepsy v0.0 TBC1D24 Bryony Thompson gene: TBC1D24 was added
gene: TBC1D24 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16 615338; DOORS syndrome 220500; Myoclonic epilepsy, infantile, familial 605021
Progressive Myoclonic Epilepsy v0.0 SERPINI1 Bryony Thompson gene: SERPINI1 was added
gene: SERPINI1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies
Progressive Myoclonic Epilepsy v0.0 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Progressive Myoclonic Epilepsy v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B 612437
Progressive Myoclonic Epilepsy v0.0 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Progressive Myoclonic Epilepsy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Progressive Myoclonic Epilepsy v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 NEU1 Bryony Thompson gene: NEU1 was added
gene: NEU1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type II
Progressive Myoclonic Epilepsy v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Progressive Myoclonic Epilepsy v0.0 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Progressive Myoclonic Epilepsy v0.0 KCNC1 Bryony Thompson gene: KCNC1 was added
gene: KCNC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to Epilepsy, progressive myoclonic 7 616187
Progressive Myoclonic Epilepsy v0.0 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, MIM#614706
Progressive Myoclonic Epilepsy v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Progressive Myoclonic Epilepsy v0.0 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2, 617829
Progressive Myoclonic Epilepsy v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures
Progressive Myoclonic Epilepsy v0.0 FARS2 Bryony Thompson gene: FARS2 was added
gene: FARS2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946
Progressive Myoclonic Epilepsy v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Progressive Myoclonic Epilepsy v0.0 CTSF Bryony Thompson gene: CTSF was added
gene: CTSF was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Progressive Myoclonic Epilepsy v0.0 CTSD Bryony Thompson gene: CTSD was added
gene: CTSD was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127
Progressive Myoclonic Epilepsy v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1
Progressive Myoclonic Epilepsy v0.0 CLN8 Bryony Thompson gene: CLN8 was added
gene: CLN8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Ceroid lipofuscinosis, neuronal, 8 600143
Progressive Myoclonic Epilepsy v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Progressive Myoclonic Epilepsy v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731
Progressive Myoclonic Epilepsy v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Progressive Myoclonic Epilepsy v0.0 CERS1 Bryony Thompson gene: CERS1 was added
gene: CERS1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230
Progressive Myoclonic Epilepsy v0.0 BRAT1 Bryony Thompson gene: BRAT1 was added
gene: BRAT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Progressive Myoclonic Epilepsy v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Progressive Myoclonic Epilepsy v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Progressive Myoclonic Epilepsy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Progressive Myoclonic Epilepsy v0.0 Bryony Thompson Added panel Progressive Myoclonic Epilepsy_RMH
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Intellectual disability syndromic and non-syndromic v0.1528 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Intellectual disability syndromic and non-syndromic v0.1527 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1526 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.19 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert list
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.13 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Review for gene: ERCC6L2 was set to GREEN
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.17 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Mendeliome v0.718 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
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
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.8 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_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
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Marked gene: DNASE1L3 as ready
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Classified gene: DNASE1L3 as Green List (high evidence)
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.6 DNASE1L3 Zornitza Stark gene: DNASE1L3 was added
gene: DNASE1L3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE1L3 were set to 22019780; 30008451
Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, MIM# 614420
Review for gene: DNASE1L3 was set to GREEN
Added comment: Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift.
Sources: Expert list
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.
Sources: Expert list
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.15 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Five patients from four unrelated families; presents with recurrent infections in childhood, dysmorphic features and ID variable.
Sources: Expert list
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Marked gene: CD70 as ready
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.13 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Review for gene: CD70 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Complement Deficiencies v0.5 CD55 Zornitza Stark Marked gene: CD55 as ready
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.5 CD55 Zornitza Stark Classified gene: CD55 as Green List (high evidence)
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.4 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Complement deficiencies_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD55 were set to 28657829; 28657861
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Review for gene: CD55 was set to GREEN
Added comment: Nine families reported.
Sources: Expert list
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Marked gene: CD40 as ready
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Classified gene: CD40 as Green List (high evidence)
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.13 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD40 were set to 11675497; 12915844
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Review for gene: CD40 was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Marked gene: CARMIL2 as ready
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Classified gene: CARMIL2 as Green List (high evidence)
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.11 CARMIL2 Zornitza Stark gene: CARMIL2 was added
gene: CARMIL2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARMIL2 were set to 29479355; 28112205; 27896283
Phenotypes for gene: CARMIL2 were set to Immunodeficiency 58, MIM# 618131
Review for gene: CARMIL2 was set to GREEN
Added comment: Eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses; inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Effective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired
Sources: Expert list
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.1 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Inflammatory bowel disease_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.9 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Mendeliome v0.716 IGHM Zornitza Stark Marked gene: IGHM as ready
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
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Marked gene: RPSA as ready
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Publications for gene: RPSA were set to
Defects of intrinsic and innate immunity v0.3 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.2 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497; Phenotypes: Asplenia, isolated congenital, MIM# 271400; Mode of inheritance: None
Combined Immunodeficiency v0.12 MSN Zornitza Stark Marked gene: MSN as ready
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.12 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.11 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Marked gene: LAT as ready
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.3 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27522155; 27242165; 10204488
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: At least two families and good functional data.
Sources: Expert list
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Marked gene: IGHM as ready
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.4 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Predominantly antibody deficiency_MelbourneGenomics_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
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.7 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Review for gene: ARPC1B was set to GREEN
Added comment: Three patients from two families with functional data.
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
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Classified gene: RAB34 as Red List (low evidence)
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.10 RAB34 Zornitza Stark reviewed gene: RAB34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.31 RANBP17 Zornitza Stark Marked gene: RANBP17 as ready
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.31 RANBP17 Zornitza Stark Classified gene: RANBP17 as Red List (low evidence)
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.30 RANBP17 Zornitza Stark reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1526 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Regression v0.54 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Regression_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
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
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
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1524 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Marked gene: ATP2B2 as ready
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.225 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to 30535804
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to Incomplete
Review for gene: ATP2B2 was set to GREEN
Added comment: onset in first decade
LOF
Sources: Literature
Incidentalome v0.6 RABL3 Sue White Marked gene: RABL3 as ready
Incidentalome v0.6 RABL3 Sue White Gene: rabl3 has been classified as Green List (High Evidence).
Incidentalome v0.6 RABL3 Sue White Classified gene: RABL3 as Green List (high evidence)
Incidentalome v0.6 RABL3 Sue White Gene: rabl3 has been classified as Green List (High Evidence).
Incidentalome v0.5 RABL3 Sue White gene: RABL3 was added
gene: RABL3 was added to Incidentalome_VCGS. Sources: Literature
Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RABL3 were set to 31406347
Phenotypes for gene: RABL3 were set to pancreatic carcinoma
Penetrance for gene: RABL3 were set to unknown
Review for gene: RABL3 was set to GREEN
Added comment: germline truncating variants associated with increased risk of pancreatic carcinoma
Sources: Literature
Mendeliome v0.706 NPM1 Sue White Marked gene: NPM1 as ready
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
Radial Ray Abnormalities v0.3 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.3 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.2 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Radial Ray Abnormalities v0.2 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White Marked gene: NPM1 as ready
Radial Ray Abnormalities v0.1 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.1 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Radial Ray Abnormalities_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
gene: NPM1 was marked as current diagnostic
Added comment: heterozygous variants cause dyskeratosis congenita phenotype
Sources: Literature
Mitochondrial disease v0.38 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.36 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Genetic Epilepsy v0.171 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.169 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Classified gene: ASAH1 as Green List (high evidence)
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.168 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 8955159; 22703880; 27026573
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Review for gene: ASAH1 was set to GREEN
Added comment: AR SMA with progressive myoclonic epilepsy. Zhou et al, 2012 - 6 patients from 3 unrelated families. Family 1 - 3 aff sibs of consang turkish parents - progressive myoclonic epilepsy developed around 7 years of age. Family 2 - 2 Italian sisters - unrelated parents both had geralised epileptic seizures and myoclonic jerks from around 12 years of age. Family 3 - 1 aff girl - myoclonic seizures at age 11. First two families - hom missense variant T42M and family 3, compound het for T42M and a gene deletion, expression studies done. Dyment et al, 2014 - girl born of N.European descent - at 10 years, absence and atonic seizures and myoclonic jerks - compound het (missense and a nonsense) and segregated with disease.
Sources: Expert list
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Classified gene: ARG1 as Green List (high evidence)
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.166 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 29726057
Phenotypes for gene: ARG1 were set to Argininemia, 207800
Review for gene: ARG1 was set to GREEN
Added comment: Seizures are part of the phenotype of this metabolic condition.
Sources: Expert list
Mendeliome v0.704 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
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
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1522 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.163 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Genetic Epilepsy_AustralianGenomics_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
Bone Marrow Failure v0.10 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Bone Marrow Failure v0.10 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White Marked gene: NPM1 as ready
Bone Marrow Failure v0.9 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Bone Marrow Failure_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
Mode of pathogenicity for gene: NPM1 was set to Other
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype
Sources: Literature
Genetic Epilepsy v0.160 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
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 AMBER
Added comment: Two unrelated families reported, 6/7 affected individuals had seizures. Some functional data.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Mendeliome v0.701 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic, MIM# 176920
Genetic Epilepsy v0.158 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Genetic Epilepsy v0.157 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to Other
Genetic Epilepsy v0.156 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Genetic Epilepsy v0.156 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793738; Phenotypes: Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: Other
Callosome v0.54 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Callosome v0.54 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Callosome v0.54 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Callosome v0.53 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Callosome v0.52 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.51 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 v0.701 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Mendeliome v0.701 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Autism v0.30 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Autism v0.30 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
Autism v0.30 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Mendeliome v0.699 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.30 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720
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
Autism v0.29 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Autism v0.28 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.27 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
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome (OMIM # 615485) to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.2 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Angelman Rett like syndromes v0.1 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.0 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
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Intellectual disability syndromic and non-syndromic v0.1519 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Intellectual disability syndromic and non-syndromic v0.1518 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.698 RHOA Sue White Marked gene: RHOA as ready
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1517 ASXL3 Ain Roesley reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Marked gene: RHOA as ready
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.155 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AFF3 were set to Intellectual disability; seizures; hypertrichosis
Review for gene: AFF3 was set to GREEN
Added comment: Voisin et al, 2019 (preprint) - New AD disorder associated with de novo missense variants in AFF3. 10 unrelated affected individuals with de novo missense variants. 10/11 had epilepsy. Functional data including animal model.
Sources: Expert list
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Marked gene: ADAT3 as ready
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Classified gene: ADAT3 as Amber List (moderate evidence)
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.153 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 26842963; 23620220; 30296593
Phenotypes for gene: ADAT3 were set to Mental retardation autosomal recessive 36, 615286
Review for gene: ADAT3 was set to AMBER
Added comment: ID gene, some individuals reported as having seizures but phenotype yet to be fully elucidated. Note founder variant.
Sources: Expert list
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889
Genetic Epilepsy v0.151 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Genetic Epilepsy v0.150 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Classified gene: AARS2 as Red List (low evidence)
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.148 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from Periodic fever, familial, MIM# 142680 to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.4 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Autoinflammatory Disorders v0.3 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.2 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.1 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 v0.696 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
Anophthalmia_Microphthalmia_Coloboma v0.32 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Anophthalmia, microphthalmia, coloboma_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 variants causing dysmorphism, brain MRI changes, normal cognition, eye and acral anomalies
Sources: Literature
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Marked gene: LMNA as ready
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Added comment: Comment when marking as ready: Heterozygous variants linked to DCM.
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Mode of pathogenicity for gene: LMNA was changed from to None
Dilated Cardiomyopathy v0.3 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.2 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.1 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.0 LMNA Teresa Zhao reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 17377071; Phenotypes: Dilated cardiomyopathy, Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2, Emery-Dreifuss muscular dystrophy 3, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford, Lipodystrophy, familial partial, type 2, Malouf syndrome, Mandibuloacral dysplasia, congenital muscular dystrophy, lethal restrictive dermopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
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 Marked gene: PUS10 as ready
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
Autism v0.27 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Autism v0.27 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Autism v0.27 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Autism v0.26 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to 31327001; 27008544
Autism v0.26 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.25 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Autism v0.25 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Intellectual disability syndromic and non-syndromic v0.1516 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Intellectual disability syndromic and non-syndromic v0.1515 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.10 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879
Macrocephaly_Megalencephaly v0.9 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Macrocephaly_Megalencephaly v0.8 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.7 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.7 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879 to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Overgrowth v0.6 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Overgrowth v0.6 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.5 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Overgrowth v0.5 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.4 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Intellectual disability syndromic and non-syndromic v0.1514 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1512 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Intellectual disability syndromic and non-syndromic v0.1511 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 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
Microcephaly v0.65 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Microcephaly v0.65 DNMT3A Zornitza Stark Added comment: Comment when marking as ready: Three individuals reported, two with the same de novo missense variant. Postulated to be GOF as opposed to LOF variants in this gene which cause an overgrowth syndrome. Animal model supports pathogenicity.
Microcephaly v0.65 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Microcephaly v0.65 DNMT3A Zornitza Stark Mode of pathogenicity for gene: DNMT3A was changed from None to Other
Microcephaly v0.64 DNMT3A Zornitza Stark Classified gene: DNMT3A as Green List (high evidence)
Microcephaly v0.64 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.3 DNMT3A Sue White reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070, 30478443; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.60 DNMT3A Sue White gene: DNMT3A was added
gene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Phenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature
Penetrance for gene: DNMT3A were set to Complete
Review for gene: DNMT3A was set to GREEN
gene: DNMT3A was marked as current diagnostic
Added comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: Literature
Microcephaly v0.60 DNMT3A Sue White gene: DNMT3A was added
gene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Phenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature
Penetrance for gene: DNMT3A were set to Complete
gene: DNMT3A was marked as current diagnostic
Added comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability
Sources: Literature
Incidentalome v0.4 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Incidentalome v0.4 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Incidentalome v0.4 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Incidentalome v0.4 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Incidentalome v0.3 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Incidentalome_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 v0.685 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 Marked gene: YY1AP1 as ready
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 Marked gene: CBWD1 as ready
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
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Marked gene: DEF6 as ready
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.680 DEF6 Zornitza Stark Marked gene: DEF6 as ready
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).
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.8 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
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.6 DEF6 Zornitza Stark gene: DEF6 was added
gene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_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 unrelated families, some functional data.
Sources: Literature
Mendeliome v0.678 SLC2A8 Zornitza Stark Marked gene: SLC2A8 as ready
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).
Autism v0.24 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Autism v0.24 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.
Autism v0.24 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Autism v0.24 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Autism v0.23 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Autism v0.22 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Hypertrichosis syndromes v0.3 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.
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Hypertrichosis syndromes v0.2 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Hypertrichosis syndromes v0.1 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Genetic Epilepsy v0.148 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.
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Genetic Epilepsy v0.147 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Genetic Epilepsy v0.146 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Intellectual disability syndromic and non-syndromic v0.1509 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Intellectual disability syndromic and non-syndromic v0.1508 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1507 SETD5 Ain Roesley reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: None
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Marked gene: VHL as ready
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Classified gene: VHL as Green List (high evidence)
Renal Macrocystic Disease v0.17 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.16 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, MIM# 193300
Review for gene: VHL was set to GREEN
Added comment: Multiple renal cysts are part of the phenotype.
Sources: Expert list
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
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.36 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.36 ACTG2 Zornitza Stark Classified gene: ACTG2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.35 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Visceral myopathy, MIM# 155310
Review for gene: ACTG2 was set to GREEN
Added comment: Renal manifestations: megacystis, hydronephrosis.
Sources: Expert list
Mendeliome v0.672 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
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
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.35 C19orf70 Zornitza Stark gene: C19orf70 was added
gene: C19orf70 was added to Mitochondrial_AustralianGenomics_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 Marked gene: MIPEP as ready
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.34 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Mitochondrial disease v0.34 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
Mitochondrial disease v0.34 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mitochondrial disease v0.34 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.33 MIPEP Zornitza Stark gene: MIPEP was added
gene: MIPEP was added to Mitochondrial_AustralianGenomics_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
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.32 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mitochondrial_AustralianGenomics_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 Marked gene: PLEKHG2 as ready
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
Optic Atrophy v0.4 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Optic Atrophy v0.4 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Optic Atrophy v0.4 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Optic Atrophy v0.3 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Optic Atrophy v0.2 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.1 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 v0.666 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Mendeliome v0.666 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.4 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
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
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
Genetic Epilepsy v0.144 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Genetic Epilepsy v0.143 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.142 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 Marked gene: HIKESHI as ready
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 Marked gene: FZD3 as ready
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
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.4 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 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.
Regression v0.53 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Regression v0.53 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Regression v0.52 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 Marked gene: H3F3A as ready
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
Regression v0.52 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.51 H3F3A Zornitza Stark commented on gene: H3F3A
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 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.
Intellectual disability syndromic and non-syndromic v0.1504 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).
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.3 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
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
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Added comment: Comment when marking as ready: Two families, functional data.
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Congenital Heart Defect v0.2 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.9 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Marked gene: MYMK as ready
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Hydrocephalus_Ventriculomegaly v0.8 MYMK Zornitza Stark Publications for gene: MYMK were set to 28681861
Hydrocephalus_Ventriculomegaly v0.7 MYMK Zornitza Stark Publications for gene: MYMK were set to
Hydrocephalus_Ventriculomegaly v0.7 MYMK Zornitza Stark Mode of inheritance for gene: MYMK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.6 MYMK Zornitza Stark Mode of inheritance for gene: MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.5 MYMK Zornitza Stark Classified gene: MYMK as Red List (low evidence)
Hydrocephalus_Ventriculomegaly v0.5 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.4 MYMK Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.648 MYMK Zornitza Stark Marked gene: MYMK as ready
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
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Marked gene: MYMK as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Gene: orc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Marked gene: SMG6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Marked gene: SNRPA as ready
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Gene: snrpa has been classified as Red List (Low Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark Marked gene: EDC3 as ready
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
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Marked gene: EDC3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Classified gene: PUS3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1501 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731
Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051
Review for gene: PUS3 was set to GREEN
Added comment: Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy.
Sources: Expert list
Aortopathy_Connective Tissue Disorders v0.8 ROBO4 Sue White gene: ROBO4 was added
gene: ROBO4 was added to Aortopathy, Connective tissue disorder_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
Penetrance for gene: ROBO4 were set to Incomplete
Review for gene: ROBO4 was set to GREEN
Added comment: Sources: Literature
Congenital Heart Defect v0.1 ROBO4 Sue White gene: ROBO4 was added
gene: ROBO4 was added to Congenital Heart Defect_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
Penetrance for gene: ROBO4 were set to Incomplete
Review for gene: ROBO4 was set to GREEN
Added comment: incomplete penetrance
Sources: Literature
Mendeliome v0.645 EIF3F Zornitza Stark Marked gene: EIF3F as ready
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
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1499 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 Marked gene: RUSC2 as ready
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
Microcephaly v0.59 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Microcephaly v0.59 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.59 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Microcephaly v0.58 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61, MIM# 617773
Microcephaly v0.57 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Microcephaly v0.56 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.141 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to 27612186
Microcephaly v0.55 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.140 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Microcephaly v0.54 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Microcephaly v0.54 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.139 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1497 RUSC2 Zornitza Stark gene: RUSC2 was added
gene: RUSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUSC2 were set to 27612186
Phenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773
Review for gene: RUSC2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Mendeliome v0.639 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
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
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1495 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Intellectual disability syndromic and non-syndromic v0.1494 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1494 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1493 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 Marked gene: CXorf56 as ready
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
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 Marked gene: USP27X as ready
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
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Marked gene: USP27X as ready
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1490 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 Marked gene: KLHL15 as ready
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
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1488 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 Marked gene: ODC1 as ready
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
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1486 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Marked gene: RALA as ready
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1484 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
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; short stature; dysmorphism
Review for gene: RALA was set to GREEN
Added comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1483 LSS Zornitza Stark Phenotypes for gene: LSS were changed from Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275 to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; intellectual disability and alopecia
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.136 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Genetic Epilepsy_AustralianGenomics_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
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Classified gene: SETD1A as Green List (high evidence)
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.134 SETD1A Zornitza Stark gene: SETD1A was added
gene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 31197650
Phenotypes for gene: SETD1A were set to Epilepsy
Review for gene: SETD1A was set to GREEN
Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature
Mendeliome v0.628 RPIA Zornitza Stark Marked gene: RPIA as ready
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
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.131 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Genetic Epilepsy_AustralianGenomics_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
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1481 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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
Polymicrogyria and Schizencephaly v0.6 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Polymicrogyria and Schizencephaly v0.5 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.4 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive
Genetic Epilepsy v0.129 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Genetic Epilepsy v0.128 SCN8A Zornitza Stark Mode of pathogenicity for gene: SCN8A was changed from to Other
Genetic Epilepsy v0.127 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.126 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1478 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Mendeliome v0.623 NUS1 Zornitza Stark Marked gene: NUS1 as ready
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
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.125 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Microcephaly v0.53 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Microcephaly v0.53 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Microcephaly v0.53 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Microcephaly v0.53 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Microcephaly v0.52 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Microcephaly_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
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
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.620 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1476 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 v0.620 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).
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Genetic Epilepsy v0.124 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
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.123 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Genetic Epilepsy_AustralianGenomics_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
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to 31855252
Genetic Epilepsy v0.121 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4, MIM#612164
Genetic Epilepsy v0.120 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Genetic Epilepsy v0.119 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from Other to Other
Genetic Epilepsy v0.118 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from to Other
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Epileptic encephalopathy, early infantile, 4, MIM#612164; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 ABAT Zornitza Stark Marked gene: ABAT as ready
Genetic Epilepsy v0.116 ABAT Zornitza Stark Added comment: Comment when marking as ready: Seizures are a prominent part of the phenotype, EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave.
Genetic Epilepsy v0.116 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Genetic Epilepsy v0.116 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Genetic Epilepsy v0.115 ABAT Zornitza Stark Publications for gene: ABAT were set to
Genetic Epilepsy v0.114 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.618 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
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).
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019, who identified an alternative cause in the original families.
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Phenotypes for gene: ADRA2B were changed from to Cortical myoclonus and epilepsy
Genetic Epilepsy v0.112 ADRA2B Zornitza Stark Publications for gene: ADRA2B were set to
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Classified gene: ADRA2B as Amber List (moderate evidence)
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Gene: adra2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Marked gene: AGO3 as ready
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 Marked gene: AGO3 as ready
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).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from to Intellectual disability
Genetic Epilepsy v0.108 AGO3 Zornitza Stark Publications for gene: AGO3 were set to
Genetic Epilepsy v0.107 AGO3 Zornitza Stark Mode of inheritance for gene: AGO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.104 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Genetic Epilepsy v0.103 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.101 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Genetic Epilepsy v0.100 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Marked gene: MED17 as ready
Genetic Epilepsy v0.99 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Genetic Epilepsy v0.98 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.97 MED17 Zornitza Stark Publications for gene: MED17 were set to
Genetic Epilepsy v0.96 PIGG Zornitza Stark Marked gene: PIGG as ready
Genetic Epilepsy v0.96 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.96 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Genetic Epilepsy v0.95 PIGG Zornitza Stark Publications for gene: PIGG were set to
Genetic Epilepsy v0.94 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.93 TBCD Zornitza Stark Marked gene: TBCD as ready
Genetic Epilepsy v0.93 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.93 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Genetic Epilepsy v0.92 TBCD Zornitza Stark Publications for gene: TBCD were set to
Genetic Epilepsy v0.91 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Marked gene: PIGP as ready
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
Genetic Epilepsy v0.90 PIGP Zornitza Stark Marked gene: PIGP as ready
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.90 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.89 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 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 Marked gene: NEUROD2 as ready
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
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.87 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Genetic Epilepsy_AustralianGenomics_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
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.85 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Genetic Epilepsy_AustralianGenomics_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
Ciliopathies v0.45 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from Nephronophthisis 19, MIM# 616217 to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Ciliopathies v0.44 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.44 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Ciliopathies v0.43 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.42 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Ciliopathies v0.42 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.9 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.8 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.605 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
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
Ciliopathies v0.41 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Ciliopathies v0.41 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
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).
Ciliopathies v0.40 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
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
Ciliopathies v0.39 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.38 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Ciliopathies v0.38 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.37 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).
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Bardet Biedl syndrome v0.7 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
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.5 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Bardet Biedl syndrome_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 plus 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).
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.37 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
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
Skeletal Ciliopathies v0.9 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Ciliopathies v0.9 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.593 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Ciliopathies v0.8 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953
Ciliopathies v0.35 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Ciliopathies v0.35 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.7 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Ciliopathies v0.7 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Ciliopathies v0.7 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.7 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Single family with renal phenotype.
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.592 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.66 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Renal Ciliopathies and Nephronophthisis v0.65 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly; OMIM #617895
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).
Skeletal Ciliopathies v0.6 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 26275418
Skeletal Ciliopathies v0.5 IFT81 Zornitza Stark Added comment: Comment on publications: Third report identified.
Skeletal Ciliopathies v0.5 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Ciliopathies v0.5 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Ciliopathies v0.5 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal dysplasia v0.3 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate 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
Skeletal dysplasia v0.2 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
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.4 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Skeletal Ciliopathies v0.4 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.4 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Dysplasia_Fetal v0.4 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.33 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.33 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.33 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.3 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Ciliopathies v0.32 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Skeletal Ciliopathies v0.2 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.31 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.2 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Ciliopathies v0.1 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.1 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.0 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
Ciliopathies v0.30 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
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.0 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
Polydactyly v0.15 PDE6D Zornitza Stark Added comment: Comment on publications: Second family identified.
Polydactyly v0.15 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Polydactyly v0.14 PDE6D Zornitza Stark Added comment: Comment on publications: Second family identified
Polydactyly v0.14 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.14 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Polydactyly v0.14 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.30 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.30 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified PMID 30423442
Ciliopathies v0.30 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.8 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.7 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.30 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Intellectual disability syndromic and non-syndromic v0.1475 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1475 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.6 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.29 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.588 PDE6D Zornitza Stark Marked gene: PDE6D as ready
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
Ciliopathies v0.29 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Ciliopathies v0.29 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Regression v0.51 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Regression v0.50 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.50 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.50 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Regression v0.49 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.49 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Two families; link with regression not established.
Regression v0.49 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.1474 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER
Regression v0.49 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Polydactyly v0.13 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Polydactyly v0.13 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.48 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Polydactyly v0.13 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Regression v0.47 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Mendeliome v0.585 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.12 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Regression v0.47 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Regression v0.46 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.46 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Regression v0.46 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.584 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Polydactyly v0.11 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Joubert syndrome and other neurological ciliopathies v0.5 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Polydactyly v0.11 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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).
Joubert syndrome and other neurological ciliopathies v0.4 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
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
Joubert syndrome and other neurological ciliopathies v0.3 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.10 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Polydactyly v0.10 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Joubert syndrome and other neurological ciliopathies v0.2 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Polydactyly v0.9 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
Joubert syndrome and other neurological ciliopathies v0.1 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
Ciliopathies v0.28 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.28 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.28 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Ciliopathies v0.27 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Ciliopathies v0.26 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.25 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Ciliopathies v0.25 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.24 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 Marked gene: SLC41A1 as ready
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
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Intellectual disability syndromic and non-syndromic v0.1473 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Intellectual disability syndromic and non-syndromic v0.1472 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1471 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1471 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Bardet-Biedl syndrome 11, MIM# 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to 16606853
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.0 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.9 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Polydactyly v0.9 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.9 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Polydactyly v0.8 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Polydactyly v0.7 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Polydactyly v0.7 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.6 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.6 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Polydactyly v0.6 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Polydactyly v0.5 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.24 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ciliopathies v0.24 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.24 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Ciliopathies v0.24 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Ciliopathies v0.23 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.22 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Ciliopathies v0.22 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.21 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.51 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Callosome v0.51 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.51 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.50 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Intellectual disability syndromic and non-syndromic v0.1469 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Intellectual disability syndromic and non-syndromic v0.1468 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1467 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1467 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.49 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Intellectual disability syndromic and non-syndromic v0.1466 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
Callosome v0.48 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Mendeliome v0.577 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Mendeliome v0.577 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 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
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.576 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Callosome v0.46 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
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.575 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.21 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).
Ciliopathies v0.20 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.20 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
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 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 Marked gene: ZNF423 as ready
Mendeliome v0.573 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.45 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Regression v0.45 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
Regression v0.45 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Mendeliome v0.572 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Mendeliome v0.571 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.43 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
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).
Regression v0.43 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Ciliopathies v0.18 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Ciliopathies v0.18 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.42 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Regression v0.42 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Regression v0.41 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
Ciliopathies v0.17 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Ciliopathies v0.16 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.15 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Ciliopathies v0.15 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.14 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
Haematuria_Alport v0.20 NPHS2 Chirag Patel Classified gene: NPHS2 as Red List (low evidence)
Haematuria_Alport v0.20 NPHS2 Chirag Patel Gene: nphs2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.20 NPHS2 Chirag Patel Classified gene: NPHS2 as Red List (low evidence)
Haematuria_Alport v0.20 NPHS2 Chirag Patel Gene: nphs2 has been classified as Red List (Low Evidence).
Proteinuria v0.65 FN1 Zornitza Stark Marked gene: FN1 as ready
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Proteinuria v0.65 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.19 LMX1B Chirag Patel Classified gene: LMX1B as Red List (low evidence)
Haematuria_Alport v0.19 LMX1B Chirag Patel Gene: lmx1b has been classified as Red List (Low Evidence).
Haematuria_Alport v0.19 NPHS2 Chirag Patel reviewed gene: NPHS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.19 CUBN Chirag Patel Classified gene: CUBN as Red List (low evidence)
Haematuria_Alport v0.19 CUBN Chirag Patel Gene: cubn has been classified as Red List (Low Evidence).
Proteinuria v0.64 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.64 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.18 LMX1B Chirag Patel reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.18 CUBN Chirag Patel reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.63 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 18268355
Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894
Review for gene: FN1 was set to GREEN
Added comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria.
Sources: Expert list
Haematuria_Alport v0.18 FN1 Chirag Patel Classified gene: FN1 as Red List (low evidence)
Haematuria_Alport v0.18 FN1 Chirag Patel Gene: fn1 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.17 FN1 Chirag Patel reviewed gene: FN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.17 CFHR5 Chirag Patel Classified gene: CFHR5 as Red List (low evidence)
Haematuria_Alport v0.17 CFHR5 Chirag Patel Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.17 CFHR5 Chirag Patel Classified gene: CFHR5 as Red List (low evidence)
Haematuria_Alport v0.17 CFHR5 Chirag Patel Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.16 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Haematuria_Alport v0.16 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.16 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.16 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.15 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.15 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.15 CLCN5 Chirag Patel Classified gene: CLCN5 as Red List (low evidence)
Haematuria_Alport v0.15 CLCN5 Chirag Patel Gene: clcn5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.14 CLCN5 Chirag Patel reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.14 CFHR5 Chirag Patel reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria_Alport v0.14 CFH Chirag Patel Classified gene: CFH as Red List (low evidence)
Haematuria_Alport v0.14 CFH Chirag Patel Gene: cfh has been classified as Red List (Low Evidence).
Haematuria_Alport v0.13 CFH Chirag Patel reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Renal Ciliopathies and Nephronophthisis v0.63 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Classified gene: XPNPEP3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.61 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 XPNPEP3 Chirag Patel reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Renal Ciliopathies and Nephronophthisis v0.58 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Renal Ciliopathies and Nephronophthisis v0.57 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.55 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Classified gene: WDR34 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.54 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Classified gene: SLC41A1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.53 SLC41A1 Chirag Patel reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23661805; Phenotypes: no OMIM number; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Classified gene: SCLT1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Gene: sclt1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.52 SCLT1 Chirag Patel reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Classified gene: POC1B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.51 POC1B Chirag Patel reviewed gene: POC1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Classified gene: PDE6D as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.50 PDE6D Chirag Patel reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: ?Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.34 KIF14 Chirag Patel Classified gene: KIF14 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.34 KIF14 Chirag Patel Gene: kif14 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.33 KIF14 Chirag Patel gene: KIF14 was added
gene: KIF14 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 30388224. 24128419
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, OMIM #617914; ?Meckel syndrome 12, OMIM #616258
Review for gene: KIF14 was set to GREEN
Added comment: 1 family with 2 sib fetuses with features consistent with Meckel syndrome, with KIF14 mutations which segregated with the disorder in the family


Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. The functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. In vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, the results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Classified gene: KIF14 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.49 KIF14 Chirag Patel reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel changed review comment from: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly.; to: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly. So not a true renal ciliopathy.
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Classified gene: IFT81 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT81 Chirag Patel reviewed gene: IFT81: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26275418; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM #617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from to Bardet-Biedl syndrome 20 617119
Renal Ciliopathies and Nephronophthisis v0.47 IFT74 Zornitza Stark Publications for gene: IFT74 were set to
Renal Ciliopathies and Nephronophthisis v0.46 IFT74 Zornitza Stark Mode of inheritance for gene: IFT74 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.44 IFT74 Zornitza Stark reviewed gene: IFT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486776; Phenotypes: Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Classified gene: IFT57 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 IFT57 Chirag Patel reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.42 GLIS2 Chirag Patel reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Classified gene: FOXC1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 FOXC1 Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Classified gene: EVC as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis van Creveld syndrome
Renal Ciliopathies and Nephronophthisis v0.40 EVC Chirag Patel reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.40 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.38 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis van Creveld syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.38 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Renal Ciliopathies and Nephronophthisis v0.37 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Renal Ciliopathies and Nephronophthisis v0.36 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.34 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Classified gene: CEP120 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Gene: cep120 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.33 CEP120 Chirag Patel reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25361962; Phenotypes: Joubert syndrome 31, OMIM #617761, Short-rib thoracic dysplasia 13 with or without polydactyly, OMIM #616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Classified gene: C2CD3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel changed review comment from: Renal phenotype not commonly seen in this group.; to: Renal phenotype not commonly seen in this ciliopathy, so not a renal ciliopathy
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel reviewed gene: C2CD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Classified gene: B9D1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 B9D1 Chirag Patel reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Meckel syndrome 9, OMIM #614209, Joubert syndrome 27, OMIM #617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.13 CD151 Zornitza Stark Marked gene: CD151 as ready
Haematuria_Alport v0.13 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.13 CD151 Zornitza Stark Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Haematuria_Alport v0.12 CD151 Zornitza Stark Publications for gene: CD151 were set to 15265795; 29138120
Haematuria_Alport v0.11 CD151 Zornitza Stark Mode of inheritance for gene: CD151 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.11 OCRL Chirag Patel Classified gene: OCRL as Red List (low evidence)
Haematuria_Alport v0.11 OCRL Chirag Patel Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 OCRL Chirag Patel Classified gene: OCRL as Red List (low evidence)
Haematuria_Alport v0.10 OCRL Chirag Patel Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Haematuria_Alport v0.10 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.10 CD151 Zornitza Stark Publications for gene: CD151 were set to
Haematuria_Alport v0.9 CD151 Zornitza Stark Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.9 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Haematuria_Alport v0.9 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.8 OCRL Chirag Patel reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.569 PIGQ Zornitza Stark Marked gene: PIGQ as ready
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
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.83 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Genetic Epilepsy_AustralianGenomics_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
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1465 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 15494731; 27884935; 29100083
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, MIM# 613886
Review for gene: NTRK2 was set to GREEN
Added comment: Three unrelated individuals reported with this phenotype.
Note recurrent missense in this gene also causes EE.
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
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.81 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 29100083
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58, MIM# 617830
Review for gene: NTRK2 was set to GREEN
Added comment: Four unrelated individuals with recurrent de novo missense variant in this gene reported.
Sources: Expert list
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
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.79 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Genetic Epilepsy_AustralianGenomics_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
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.76 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Genetic Epilepsy_AustralianGenomics_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 23033978; 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 Marked gene: GABRB1 as ready
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
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Marked gene: GABRB1 as ready
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.74 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Genetic Epilepsy_AustralianGenomics_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 Marked gene: GABRA2 as ready
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
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.72 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29961870; 31032849; 29422393
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Review for gene: GABRA2 was set to GREEN
Added comment: Five unrelated individuals reported in three publications.
Sources: Expert list
Mendeliome v0.557 GUF1 Zornitza Stark Marked gene: GUF1 as ready
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
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.71 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Genetic Epilepsy_AustralianGenomics_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 Marked gene: CPLX1 as ready
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
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.69 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Genetic Epilepsy_AustralianGenomics_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
Regression v0.41 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.41 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.554 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.40 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Regression_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 v0.554 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).
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Genetic Epilepsy v0.68 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
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.66 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Genetic Epilepsy_AustralianGenomics_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
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Marked gene: GLS as ready
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1463 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30970188
Phenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to AMBER
Added comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR, this may not be tractable depending on sequencing modality.
Sources: Literature
Mendeliome v0.552 GLS Zornitza Stark Marked gene: GLS as ready
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
Genetic Epilepsy v0.65 GLS Zornitza Stark Marked gene: GLS as ready
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.65 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.64 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Genetic Epilepsy_AustralianGenomics_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
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328
Review for gene: GLS was set to AMBER
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels.
Sources: Expert list
Regression v0.39 CAD Zornitza Stark Marked gene: CAD as ready
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.39 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.38 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Regression_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 v0.550 CAD Zornitza Stark Marked gene: CAD as ready
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
Genetic Epilepsy v0.63 CAD Zornitza Stark Marked gene: CAD as ready
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.63 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.62 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Genetic Epilepsy_AustralianGenomics_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 Marked gene: PARS2 as ready
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
Mitochondrial disease v0.31 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Mitochondrial disease v0.31 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.31 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mitochondrial disease v0.30 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mitochondrial disease v0.29 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.28 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
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Classified gene: PARS2 as Green List (high evidence)
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.60 PARS2 Zornitza Stark gene: PARS2 was added
gene: PARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 29410512; 28077841; 25629079; 29915213
Phenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Review for gene: PARS2 was set to GREEN
Added comment: Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype.
Sources: Expert list
Mendeliome v0.545 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
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 Marked gene: NADSYN1 as ready
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
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.32 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.32 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.31 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_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 Marked gene: PPP1R12A as ready
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
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published; 12 individuals, upgraded to Green.
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Differences of Sex Development v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.4 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Hypertrophic cardiomyopathy v0.4 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.4 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.4 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.3 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Hypertrophic cardiomyopathy_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 v0.537 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
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
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.27 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mitochondrial_AustralianGenomics_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
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.222 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from Deafness, autosomal recessive 98, MIM#614861 to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.221 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Deafness, autosomal recessive 98, MIM#614861
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Deafness_IsolatedAndComplex v0.220 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Classified gene: TSPEAR as Red List (low evidence)
Deafness_IsolatedAndComplex v0.219 TSPEAR Zornitza Stark Gene: tspear has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.218 TSPEAR Zornitza Stark reviewed gene: TSPEAR: Rating: RED; Mode of pathogenicity: None; Publications: 22678063, 26969326; Phenotypes: Deafness, autosomal recessive 98, MIM#614861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Marked gene: TNC as ready
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.218 TNC Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629
Deafness_IsolatedAndComplex v0.217 TNC Zornitza Stark Publications for gene: TNC were set to
Deafness_IsolatedAndComplex v0.216 TNC Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Classified gene: TNC as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.215 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.214 TNC Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from Deafness to Deafness
Deafness_IsolatedAndComplex v0.214 TJP2 Zornitza Stark Publications for gene: TJP2 were set to 24752540; 20602916; 18616530
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Deafness
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Deafness_IsolatedAndComplex v0.213 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Classified gene: TJP2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.212 TJP2 Zornitza Stark Gene: tjp2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.211 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: 24752540, 20602916, 18616530; Phenotypes: Deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Deleted their comment
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.208 MPZL2 Zornitza Stark Publications for gene: MPZL2 were set to
Deafness_IsolatedAndComplex v0.207 MPZL2 Zornitza Stark Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145
Deafness_IsolatedAndComplex v0.206 MPZL2 Zornitza Stark Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.205 MPZL2 Zornitza Stark reviewed gene: MPZL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111, MIM#618145; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Marked gene: LMX1A as ready
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Added comment: Comment when marking as ready: Two families with mono-allelic variants and dominant pattern of deafness, one family with bi-allelic variants. Mouse model.
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.205 LMX1A Zornitza Stark Phenotypes for gene: LMX1A were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.204 LMX1A Zornitza Stark Publications for gene: LMX1A were set to
Deafness_IsolatedAndComplex v0.203 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.202 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Classified gene: LMX1A as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.201 LMX1A Zornitza Stark Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.200 LMX1A Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29971487; Phenotypes: Deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Added comment: Comment when marking as ready: Note founder variants are synonymous (S165S) or deep intronic, c.482+1986_1988, c.482+1991_2000del
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.200 HGF Zornitza Stark Publications for gene: HGF were set to
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.199 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Deafness, autosomal recessive and autosomal dominant
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Classified gene: GJB6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.198 GJB6 Zornitza Stark Gene: gjb6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.197 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.196 GJB4 Zornitza Stark reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Unknown to Other
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Classified gene: GJB1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Added comment: Comment on publications: Another six individuals reported in 17503324, though in one digenic inheritance was suggested.
Deafness_IsolatedAndComplex v0.193 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Added comment: Comment when marking as ready: Additional publication identified, promoted to Amber.
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.190 DIABLO Zornitza Stark Publications for gene: DIABLO were set to 21722859; 10929711
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Classified gene: DIABLO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.189 DIABLO Zornitza Stark Gene: diablo has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified, classification changed to Green.
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.188 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912; 24875298
Deafness_IsolatedAndComplex v0.187 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Classified gene: CCDC50 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.186 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Marked gene: CATSPER2 as ready
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Classified gene: CATSPER2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.185 CATSPER2 Zornitza Stark Gene: catsper2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.184 CATSPER2 Zornitza Stark reviewed gene: CATSPER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Deafness, X-linked 5, MIM# 300614
Deafness_IsolatedAndComplex v0.184 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Deafness_IsolatedAndComplex v0.183 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.182 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, MIM# 300614; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.182 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.181 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and 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
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.180 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.179 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
Added comment: 14 children from 10 families reported, deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.178 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.177 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.176 Zornitza Stark removed gene:SLC25A6 from the panel
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark gene: SLC26A5 was added
gene: SLC26A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A5 were set to 24164807
Phenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC26A5 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.174 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.173 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28181337; 28165339; 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Deafness is part of the phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Classified gene: SERAC1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.172 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.171 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Review for gene: SERAC1 was set to GREEN
Added comment: Deafness is a common part of the phenotype of this metabolic condition.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Marked gene: ICK as ready
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Gene: ick has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, MIM# 612651
Review for gene: ICK was set to RED
Added comment: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated.
Sources: Expert list
Mendeliome v0.533 WBP2 Zornitza Stark Marked gene: WBP2 as ready