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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
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.533 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.532 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.170 WBP2 Zornitza Stark Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM3 617639 to Deafness, autosomal recessive 107, MIM# 617639
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.169 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.168 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM3 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Mendeliome v0.531 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.531 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.530 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.167 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.166 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Mendeliome v0.529 GRAP Zornitza Stark Marked gene: GRAP as ready
Mendeliome v0.529 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Mendeliome v0.529 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Deafness_IsolatedAndComplex v0.165 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Mendeliome v0.528 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.528 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.527 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.164 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.163 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 30973865; 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Mendeliome v0.526 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.526 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.525 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family with affected sibs, mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.162 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.161 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family reported with affected sibs, mouse model.
Sources: Expert list
Mendeliome v0.524 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Mendeliome v0.524 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.524 SLC26A5 Zornitza Stark Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865
Mendeliome v0.523 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to
Mendeliome v0.522 SLC26A5 Zornitza Stark Mode of inheritance for gene: SLC26A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.521 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Red List (low evidence)
Mendeliome v0.521 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.520 SLC26A5 Zornitza Stark reviewed gene: SLC26A5: Rating: RED; Mode of pathogenicity: None; Publications: 24164807; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Marked gene: SLC25A6 as ready
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark Gene: slc25a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.160 SLC25A6 Zornitza Stark gene: SLC25A6 was added
gene: SLC25A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC25A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A6 were set to 24164807
Phenotypes for gene: SLC25A6 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC25A6 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
Mendeliome v0.520 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.520 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.519 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.159 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.158 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.518 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.518 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.517 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, sibs with homozygous missense variant; mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.157 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.156 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM#617931 to Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy
Intellectual disability syndromic and non-syndromic v0.1459 PUM1 Zornitza Stark Publications for gene: PUM1 were set to 29474920; 25768905
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Classified gene: PUM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Added comment: Comment on list classification: Another two families reported.
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Classified gene: S1PR2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.155 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.154 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S1PR2 were set to 26805784; 29776397; 27383011
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Review for gene: S1PR2 was set to GREEN
Added comment: Three unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.516 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.516 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.515 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.153 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.152 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Classified gene: NARS2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.151 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.150 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 25807530; 28077841; 30327238; 25385316
Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM# 618434; Combined oxidative phosphorylation deficiency 24, MIM#616239
Review for gene: NARS2 was set to GREEN
Added comment: Only one family described with isolated deafness; however, deafness is also part of the phenotype of the multi-system mitochondrial disorder associated with this gene.
Sources: Expert list
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Marked gene: KIT as ready
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Classified gene: KIT as Green List (high evidence)
Deafness_IsolatedAndComplex v0.149 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.148 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism, MIM# 172800
Review for gene: KIT was set to GREEN
Added comment: Deafness described in a proportion of affected individuals.
Sources: Expert list
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Deafness_IsolatedAndComplex v0.147 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Marked gene: HAAO as ready
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Classified gene: HAAO as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.146 HAAO Zornitza Stark Gene: haao has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.145 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Review for gene: HAAO was set to AMBER
Added comment: Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data.
Sources: Expert list
Mendeliome v0.514 PROC Zornitza Stark Marked gene: PROC as ready
Mendeliome v0.514 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Mendeliome v0.514 PROC Zornitza Stark Publications for gene: PROC were set to
Mendeliome v0.514 PROC Zornitza Stark Phenotypes for gene: PROC were changed from to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Mendeliome v0.513 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.5 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Ichthyosis and Porokeratosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.5 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Ichthyosis and Porokeratosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype. This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Deafness_IsolatedAndComplex v0.144 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.143 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 30561130; 28017832
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness
Review for gene: VPS33B was set to GREEN
Added comment: Four unrelated individuals reported with this phenotype.
This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature
Hereditary Spastic Paraplegia v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Review for gene: KLC2 was set to RED
Added comment: A large deletion in the non-coding region segregates with disease and has been identified in >3 cases with SPOAN. This CNV is not detected by whole exome sequencing.
Sources: Expert list
Mendeliome v0.512 PROC Chris Richmond reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22545135, 30925296; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.3 GRID2 Bryony Thompson Marked gene: GRID2 as ready
Hereditary Spastic Paraplegia v0.3 GRID2 Bryony Thompson Added comment: Comment when marking as ready: Deletion not detectable using exome sequencing and only one reported case with spastic paraplegia. This gene is associated with Spinocerebellar ataxia, autosomal recessive 18, 616204.
Hereditary Spastic Paraplegia v0.3 GRID2 Bryony Thompson Gene: grid2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.3 GRID2 Bryony Thompson gene: GRID2 was added
gene: GRID2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRID2 were set to 24122788
Phenotypes for gene: GRID2 were set to Complicated spastic paraplegia
Review for gene: GRID2 was set to RED
Added comment: One case with a de novo partial deletion of exon1 of GRID2 with a complicated spastic paraplegia phenotype.
Sources: Expert list
Hereditary Spastic Paraplegia v0.2 L1CAM Bryony Thompson Marked gene: L1CAM as ready
Hereditary Spastic Paraplegia v0.2 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.2 L1CAM Bryony Thompson Classified gene: L1CAM as Green List (high evidence)
Hereditary Spastic Paraplegia v0.2 L1CAM Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.1 L1CAM Bryony Thompson gene: L1CAM was added
gene: L1CAM was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000
Review for gene: L1CAM was set to GREEN
Added comment: Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1.
Sources: Expert list
Hereditary Spastic Paraplegia v0.0 ZFR Bryony Thompson gene: ZFR was added
gene: ZFR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ZFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFR were set to 24482476
Phenotypes for gene: ZFR were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 WDR48 Bryony Thompson gene: WDR48 was added
gene: WDR48 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to 24482476
Phenotypes for gene: WDR48 were set to Spastic paraplegia
Hereditary Spastic Paraplegia v0.0 VPS37A Bryony Thompson gene: VPS37A was added
gene: VPS37A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to 22717650
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR
Hereditary Spastic Paraplegia v0.0 USP8 Bryony Thompson gene: USP8 was added
gene: USP8 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to 24482476
Phenotypes for gene: USP8 were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 UNC80 Bryony Thompson gene: UNC80 was added
gene: UNC80 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hereditary Spastic Paraplegia v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 8960746
Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis
Hereditary Spastic Paraplegia v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP1 were set to 27217339
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 STXBP1 Bryony Thompson gene: STXBP1 was added
gene: STXBP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to Early infantile epileptic encephalopathy 4
Hereditary Spastic Paraplegia v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 28534044
Phenotypes for gene: SOX10 were set to Neurocristopathy; PCWH syndrome, MIM#609136; Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 SLC19A3 Bryony Thompson gene: SLC19A3 was added
gene: SLC19A3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Biotin-thiamine-responsive basal ganglia disease
Hereditary Spastic Paraplegia v0.0 SELENOI Bryony Thompson gene: SELENOI was added
gene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917; 29500230
Phenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures
Hereditary Spastic Paraplegia v0.0 PGAP1 Bryony Thompson gene: PGAP1 was added
gene: PGAP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to 24482476
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42
Hereditary Spastic Paraplegia v0.0 MTPAP Bryony Thompson gene: MTPAP was added
gene: MTPAP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27391121; 20970105
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Hereditary Spastic Paraplegia v0.0 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 24482476
Phenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4
Hereditary Spastic Paraplegia v0.0 KLC4 Bryony Thompson gene: KLC4 was added
gene: KLC4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia; progressive complicated spastic paraplegia
Hereditary Spastic Paraplegia v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Spastic Paraplegia - paediatric_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
Phenotypes for gene: IFRD1 were set to autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
Hereditary Spastic Paraplegia v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2
Hereditary Spastic Paraplegia v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 26381321
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Hereditary Spastic Paraplegia v0.0 GAD1 Bryony Thompson gene: GAD1 was added
gene: GAD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 15571623
Phenotypes for gene: GAD1 were set to Cerebralpalsy, spasticquadriplegic,1, 603513
Hereditary Spastic Paraplegia v0.0 FOXG1 Bryony Thompson gene: FOXG1 was added
gene: FOXG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett syndrome
Hereditary Spastic Paraplegia v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 25149867; 23975261
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b
Hereditary Spastic Paraplegia v0.0 DSTYK Bryony Thompson gene: DSTYK was added
gene: DSTYK was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR
Hereditary Spastic Paraplegia v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3
Hereditary Spastic Paraplegia v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 16399879
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Hereditary Spastic Paraplegia v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome
Hereditary Spastic Paraplegia v0.0 ARSI Bryony Thompson gene: ARSI was added
gene: ARSI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to 24482476
Phenotypes for gene: ARSI were set to Childhood onset spastic paraplegia
Hereditary Spastic Paraplegia v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035
Phenotypes for gene: ARL6IP1 were set to ?Spastic paraplegia 61, autosomal recessive, MIM#615685
Hereditary Spastic Paraplegia v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 24482476; 30089829; 29463858
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR
Hereditary Spastic Paraplegia v0.0 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjögren-Larsson syndrome
Hereditary Spastic Paraplegia v0.0 ACOX1 Bryony Thompson gene: ACOX1 was added
gene: ACOX1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Pseudoneonatal adrenoleukodystrophy
Hereditary Spastic Paraplegia v0.0 WDR45B Bryony Thompson gene: WDR45B was added
gene: WDR45B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
Hereditary Spastic Paraplegia v0.0 UCHL1 Bryony Thompson gene: UCHL1 was added
gene: UCHL1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were set to Spastic paraplegia 79, autosomal recessive, 615491, AR
Hereditary Spastic Paraplegia v0.0 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFG were set to ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Hereditary Spastic Paraplegia v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR
Hereditary Spastic Paraplegia v0.0 SPART Bryony Thompson gene: SPART was added
gene: SPART was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome; Spastic paraplegia 20, autosomal recessive
Hereditary Spastic Paraplegia v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure
Hereditary Spastic Paraplegia v0.0 SLC1A4 Bryony Thompson gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Hereditary Spastic Paraplegia v0.0 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, 300523, XL
Hereditary Spastic Paraplegia v0.0 SERAC1 Bryony Thompson gene: SERAC1 was added
gene: SERAC1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome
Hereditary Spastic Paraplegia v0.0 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi Goutieres syndrome 5
Hereditary Spastic Paraplegia v0.0 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi Goutieres syndrome 2
Hereditary Spastic Paraplegia v0.0 REEP2 Bryony Thompson gene: REEP2 was added
gene: REEP2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625
Hereditary Spastic Paraplegia v0.0 NT5C2 Bryony Thompson gene: NT5C2 was added
gene: NT5C2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR
Hereditary Spastic Paraplegia v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Hereditary Spastic Paraplegia v0.0 MAG Bryony Thompson gene: MAG was added
gene: MAG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 31402626; 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Hereditary Spastic Paraplegia v0.0 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302; Spastic ataxia 2, autosomal recessive
Hereditary Spastic Paraplegia v0.0 KIDINS220 Bryony Thompson gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296
Hereditary Spastic Paraplegia v0.0 KDM5C Bryony Thompson gene: KDM5C was added
gene: KDM5C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KDM5C 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: KDM5C were set to Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy
Hereditary Spastic Paraplegia v0.0 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7
Hereditary Spastic Paraplegia v0.0 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation
Hereditary Spastic Paraplegia v0.0 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 21935284; 24509643
Phenotypes for gene: GCH1 were set to Dystonia; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Hereditary Spastic Paraplegia v0.0 FARS2 Bryony Thompson gene: FARS2 was added
gene: FARS2 was added to Hereditary Spastic Paraplegia - paediatric_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 Spastic paraplegia 77, autosomal recessive, 617046
Hereditary Spastic Paraplegia v0.0 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERLIN1 were set to Spastic paraplegia 62, 615681; Hereditary spastic paraplegia
Hereditary Spastic Paraplegia v0.0 ENTPD1 Bryony Thompson gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia 64, 615683
Hereditary Spastic Paraplegia v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030
Hereditary Spastic Paraplegia v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043
Hereditary Spastic Paraplegia v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559
Hereditary Spastic Paraplegia v0.0 ARG1 Bryony Thompson gene: ARG1 was added
gene: ARG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Progressive spastic tetraplegia; Argininaemia, 207800
Hereditary Spastic Paraplegia v0.0 AP4S1 Bryony Thompson gene: AP4S1 was added
gene: AP4S1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to developmental delay; Spastic paraplegia 52, autosomal recessive, 614067; seizures
Hereditary Spastic Paraplegia v0.0 AP4M1 Bryony Thompson gene: AP4M1 was added
gene: AP4M1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936
Hereditary Spastic Paraplegia v0.0 AP4E1 Bryony Thompson gene: AP4E1 was added
gene: AP4E1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, 613744
Hereditary Spastic Paraplegia v0.0 AP4B1 Bryony Thompson gene: AP4B1 was added
gene: AP4B1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066
Hereditary Spastic Paraplegia v0.0 ALS2 Bryony Thompson gene: ALS2 was added
gene: ALS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225
Hereditary Spastic Paraplegia v0.0 AIMP1 Bryony Thompson gene: AIMP1 was added
gene: AIMP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
Hereditary Spastic Paraplegia v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Spastic Paraplegia - paediatric_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 Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive
Hereditary Spastic Paraplegia v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400
Hereditary Spastic Paraplegia v0.0 Bryony Thompson Added panel Hereditary Spastic Paraplegia - paediatric_RMH
Autism v0.21 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Autism v0.21 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Autism v0.21 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Autism v0.20 SHANK1 Zornitza Stark Classified gene: SHANK1 as Green List (high evidence)
Autism v0.20 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.1456 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Classified gene: SHANK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.511 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.142 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from to Deafness, autosomal recessive
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.141 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.140 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Mendeliome v0.510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.139 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Deafness_IsolatedAndComplex v0.138 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Classified gene: BCAP31 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.137 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.136 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989; 31330203; 28332767
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Review for gene: BCAP31 was set to GREEN
Added comment: Five unrelated families reported, deafness is part of the phenotype.
Sources: Literature
Ichthyosis and Porokeratosis v0.3 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Ichthyosis and Porokeratosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.3 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.3 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.2 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.508 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.508 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1453 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.507 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.135 AP1B1 Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.134 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.133 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four families reported with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.506 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Mendeliome v0.506 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.506 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Mendeliome v0.505 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Mendeliome v0.504 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.503 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Mendeliome v0.503 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.502 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Mendeliome v0.502 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.501 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Mendeliome v0.500 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Mendeliome v0.499 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Mendeliome v0.499 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.498 BDP1 Zornitza Stark reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Deafness, autosomal recessive 112, MIM#618257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.132 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Deafness_IsolatedAndComplex v0.131 BDP1 Zornitza Stark Publications for gene: BDP1 were set to
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Added comment: Comment on list classification: Single family, nonstop variant.
Deafness_IsolatedAndComplex v0.130 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.129 BDP1 Zornitza Stark Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.128 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to
Deafness_IsolatedAndComplex v0.127 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44, MIM# 607453; Childhood onset deafness, progressive
Deafness_IsolatedAndComplex v0.126 CCDC50 Zornitza Stark Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.125 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.498 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Mendeliome v0.497 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.496 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Mendeliome v0.495 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Mendeliome v0.495 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.494 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.124 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss, MIM#617236
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Classified gene: CEP78 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.123 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Marked gene: CRYM as ready
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.122 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.121 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from Deafness, autosomal dominant 40, MIM# 616357 to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.120 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357
Deafness_IsolatedAndComplex v0.119 CRYM Zornitza Stark Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Mendeliome v0.494 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Mendeliome v0.494 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.118 CRYM Zornitza Stark Publications for gene: CRYM were set to
Mendeliome v0.494 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Classified gene: CRYM as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.117 CRYM Zornitza Stark Gene: crym has been classified as Amber List (Moderate Evidence).
Mendeliome v0.493 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Mendeliome v0.492 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.491 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Mendeliome v0.491 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIABLO Zornitza Stark reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: None; Publications: 21722859, 10929711; Phenotypes: Deafness, autosomal dominant 64, MIM# 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.116 DIABLO Zornitza Stark Mode of inheritance for gene: DIABLO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.115 DIABLO Zornitza Stark Publications for gene: DIABLO were set to
Deafness_IsolatedAndComplex v0.114 DIABLO Zornitza Stark Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Deafness_IsolatedAndComplex v0.113 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Mendeliome v0.490 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Mendeliome v0.489 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.488 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Mendeliome v0.487 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Mendeliome v0.487 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.486 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1451 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.485 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.58 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.112 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Mendeliome v0.484 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Mendeliome v0.483 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Mendeliome v0.482 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.481 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Mendeliome v0.481 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.480 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.111 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from to Deafness, autosomal recessive 102, MIM# 615974
Deafness_IsolatedAndComplex v0.110 EPS8 Zornitza Stark Publications for gene: EPS8 were set to
Deafness_IsolatedAndComplex v0.109 EPS8 Zornitza Stark Mode of inheritance for gene: EPS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.480 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.480 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.479 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.478 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Mendeliome v0.478 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.478 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Deafness_IsolatedAndComplex v0.108 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Mendeliome v0.477 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Mendeliome v0.476 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Mendeliome v0.476 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.107 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to 29242249; 9843211
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Publications for gene: FOXI1 were set to
Deafness_IsolatedAndComplex v0.106 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to 24619944
Deafness_IsolatedAndComplex v0.106 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to Enlarged vestibular aqueduct, MIM# 600791
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Deafness_IsolatedAndComplex v0.105 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.105 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from to sensorineural deafness and distal renal tubular acidosis
Deafness_IsolatedAndComplex v0.104 FOXI1 Zornitza Stark Mode of inheritance for gene: FOXI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.103 GRXCR2 Zornitza Stark Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.102 GRXCR2 Zornitza Stark Publications for gene: GRXCR2 were set to
Deafness_IsolatedAndComplex v0.101 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.100 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
Mendeliome v0.474 HARS Zornitza Stark Publications for gene: HARS were set to
Mendeliome v0.474 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 HARS Zornitza Stark reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.99 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.98 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Deafness_IsolatedAndComplex v0.97 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Marked gene: KARS as ready
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.96 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Deafness, autosomal recessive 89, MIM# 613916
Deafness_IsolatedAndComplex v0.95 KARS Zornitza Stark Publications for gene: KARS were set to
Deafness_IsolatedAndComplex v0.94 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Added comment: Comment when marking as ready: Note that it is the association with isolated deafness that is disputed. There is ample evidence that bi-allelic variants cause syndromic deafness.
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.93 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Deafness_IsolatedAndComplex v0.92 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Deafness_IsolatedAndComplex v0.91 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.90 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, MIM#615300
Deafness_IsolatedAndComplex v0.89 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.473 KITLG Zornitza Stark Marked gene: KITLG as ready
Mendeliome v0.473 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.473 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.472 KITLG Zornitza Stark Publications for gene: KITLG were set to
Mendeliome v0.471 KITLG Zornitza Stark Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Mendeliome v0.470 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Mendeliome v0.470 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.469 KITLG Zornitza Stark reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522471; Phenotypes: Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Marked gene: MCM2 as ready
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Classified gene: MCM2 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.88 MCM2 Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence).
Autism v0.19 MET Zornitza Stark Marked gene: MET as ready
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Autism v0.19 MET Zornitza Stark Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Autism v0.19 MET Zornitza Stark Mode of inheritance for gene: MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.19 MET Zornitza Stark Classified gene: MET as Red List (low evidence)
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.87 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 50, MIM# 613074
Mendeliome v0.469 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Deafness, autosomal dominant 50, MIM# 613074
Mendeliome v0.468 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Mendeliome v0.467 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.466 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Mendeliome v0.466 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 MIR96 Zornitza Stark reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Deafness, autosomal dominant 50, MIM# 613074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.86 MIR96 Zornitza Stark Phenotypes for gene: MIR96 were changed from to Autosomal dominant hearing loss
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Publications for gene: MIR96 were set to
Deafness_IsolatedAndComplex v0.85 MIR96 Zornitza Stark Mode of inheritance for gene: MIR96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.84 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.83 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.83 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant 4A, MIM# 600652 to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652
Deafness_IsolatedAndComplex v0.82 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MIR96 Lilian Downie reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: None; Publications: 19363479, 29325119; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.81 MSRB3 Zornitza Stark Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
Deafness_IsolatedAndComplex v0.80 MSRB3 Zornitza Stark Publications for gene: MSRB3 were set to
Deafness_IsolatedAndComplex v0.79 MSRB3 Zornitza Stark reviewed gene: MSRB3: Rating: ; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Marked gene: MET as ready
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.79 MET Zornitza Stark gene: MET was added
gene: MET was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MET was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MET were set to 25941349; 31801140
Phenotypes for gene: MET were set to Deafness, autosomal recessive 97, MIM# 616705
Review for gene: MET was set to RED
Added comment: Two families reported, no functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 MCM2 Lilian Downie gene: MCM2 was added
gene: MCM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MCM2 were set to 26196677
Phenotypes for gene: MCM2 were set to Autosomal dominant hearing loss
Review for gene: MCM2 was set to RED
Added comment: One family, expression studies.
Sources: Expert list
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Marked gene: KITLG as ready
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.78 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.77 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541342, 27650058, 26970254, 26657938, 28832386, 28000701, 29205794; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.77 KITLG Zornitza Stark gene: KITLG was added
gene: KITLG was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KITLG were set to 26522471
Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
Review for gene: KITLG was set to AMBER
Added comment: Two unrelated families, limited functional data.
Sources: Expert list
Deafness_IsolatedAndComplex v0.76 KCNJ10 Lilian Downie reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.76 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, MIM# 612347 to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Deafness_IsolatedAndComplex v0.75 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23768514, 23768514, 14975237; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.74 HOMER2 Zornitza Stark Phenotypes for gene: HOMER2 were changed from to Deafness, autosomal dominant 68, MIM# 616707
Deafness_IsolatedAndComplex v0.73 HOMER2 Zornitza Stark Publications for gene: HOMER2 were set to
Deafness_IsolatedAndComplex v0.72 HOMER2 Zornitza Stark reviewed gene: HOMER2: Rating: ; Mode of pathogenicity: None; Publications: 25816005, 30047143, 25816005; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.72 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Marked gene: HGF as ready
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.72 HGF Zornitza Stark Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265
Deafness_IsolatedAndComplex v0.71 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.71 HARS Zornitza Stark Publications for gene: HARS were set to 22279524
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Marked gene: HARS as ready
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.70 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Usher syndrome type 3B, MIM# 614504 to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.69 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Usher syndrome type 3B, MIM# 614504
Deafness_IsolatedAndComplex v0.68 GRXCR2 Lilian Downie changed review comment from: Single family with multiple sibs, function studies.; to: Single family with multiple sibs, function studies. 'Moderate' classification from ClinGen expert panel.
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Publications for gene: HARS were set to
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Classified gene: HARS as Red List (low evidence)
Deafness_IsolatedAndComplex v0.68 HARS Zornitza Stark Gene: hars has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.67 GRXCR2 Lilian Downie reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 HARS Zornitza Stark reviewed gene: HARS: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Usher syndrome type 3B, MIM# 614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.67 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Deafness, autosomal dominant 28, MIM# 608641 to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.66 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.65 FOXI1 Lilian Downie reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29242249, 9843211; Phenotypes: sensorineural deafness and distal renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from to Deafness, autosomal dominant 28, MIM# 608641
Deafness_IsolatedAndComplex v0.65 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from Deafness, autosomal dominant 2B, MIM# 612644 to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.64 GJB3 Zornitza Stark Publications for gene: GJB3 were set to 9843210
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644
Deafness_IsolatedAndComplex v0.63 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.62 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.61 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM# 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.61 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.60 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Deafness_IsolatedAndComplex v0.59 EPS8 Lilian Downie reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.59 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Deafness_IsolatedAndComplex v0.58 ELMOD3 Zornitza Stark Publications for gene: ELMOD3 were set to
Deafness_IsolatedAndComplex v0.57 ELMOD3 Zornitza Stark Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.56 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.55 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie changed review comment from: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list; to: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). As a dominant cause of non syndromic deafness this gene is RED. Single paper with AR phenotype in 3 unrelated families - for the AR phenotype is GREEN.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie edited their review of gene: DMXL2: Changed rating: GREEN
Deafness_IsolatedAndComplex v0.55 DMXL2 Lilian Downie gene: DMXL2 was added
gene: DMXL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 27657680; 22875945; 31688942
Phenotypes for gene: DMXL2 were set to Autosomal dominant hearing loss; autosomal recessive EE with deafness
Review for gene: DMXL2 was set to RED
Added comment: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families.
Sources: Expert list
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.55 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM# 277580
Deafness_IsolatedAndComplex v0.54 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.53 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome, type 4B, MIM# 613265 to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.52 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, MIM# 613265
Deafness_IsolatedAndComplex v0.51 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Deafness_IsolatedAndComplex v0.50 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 19764030; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIABLO Lilian Downie reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: Other; Publications: 21722859, 10929711; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Deafness_IsolatedAndComplex v0.47 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 CRYM Lilian Downie reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25601850; 22558177; 25130614
Phenotypes for gene: DCDC2 were set to Deafness, autosomal recessive 66, MIM# 610212
Review for gene: DCDC2 was set to RED
Added comment: Single family reported with deafness, some supportive functional data. Rated as LIMITED by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from Deafness, X-linked 6, MIM# 300914 to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.44 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to 23714752
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6, MIM# 300914
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to
Deafness_IsolatedAndComplex v0.43 COL4A6 Zornitza Stark Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.42 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.42 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.41 COL4A6 Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM# 300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.41 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP78 were set to 28005958; 27588451; 27588452; 27627988
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype.
Sources: Expert list
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.41 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.40 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Deafness_IsolatedAndComplex v0.39 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to 24781754; 17021174
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Publications for gene: CLIC5 were set to
Deafness_IsolatedAndComplex v0.38 CLIC5 Zornitza Stark Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.37 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.36 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.36 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM# 604928 to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM# 604928
Deafness_IsolatedAndComplex v0.35 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM# 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Marked gene: CEACAM16 as ready
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Gene: ceacam16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.34 CEACAM16 Zornitza Stark Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Deafness_IsolatedAndComplex v0.33 CEACAM16 Zornitza Stark Publications for gene: CEACAM16 were set to
Deafness_IsolatedAndComplex v0.32 CEACAM16 Zornitza Stark Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CEACAM16 Zornitza Stark reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.31 CCDC50 Lilian Downie reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.31 CDC14A Zornitza Stark Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Deafness_IsolatedAndComplex v0.30 CDC14A Zornitza Stark Publications for gene: CDC14A were set to
Deafness_IsolatedAndComplex v0.29 CDC14A Zornitza Stark Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Marked gene: CD164 as ready
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark Gene: cd164 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.28 CD164 Zornitza Stark gene: CD164 was added
gene: CD164 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD164 were set to 26197441
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969
Review for gene: CD164 was set to RED
Added comment: Single family reported; rated as LIMITED evidence by ClinGen.
Sources: Expert list
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.27 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Sinoatrial node dysfunction and deafness, MIM# 614896 to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Sinoatrial node dysfunction and deafness, MIM# 614896
Deafness_IsolatedAndComplex v0.26 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.25 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Classified gene: CACNA1D as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.24 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.23 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 21131953, 15357422, 22678062; Phenotypes: Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.23 BDP1 Lilian Downie reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Non syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.0 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 17377520; 22405330
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Macular Dystrophy/Stargardt Disease v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Recessive spastic paraplegia with retinal degeneration
Macular Dystrophy/Stargardt Disease v0.0 TIMP3 Bryony Thompson gene: TIMP3 was added
gene: TIMP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TIMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TIMP3 were set to Sorsby fundus dystrophy
Macular Dystrophy/Stargardt Disease v0.0 RS1 Bryony Thompson gene: RS1 was added
gene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RS1 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: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis)
Macular Dystrophy/Stargardt Disease v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Macular Dystrophy/Stargardt Disease v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGR 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: RPGR were set to Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020
Macular Dystrophy/Stargardt Disease v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RP1L1 were set to Occult macular dystrophy, 613587
Macular Dystrophy/Stargardt Disease v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Fundus albipunctatus; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Bothnia retinal dystrophy; Retinitis punctata albescens
Macular Dystrophy/Stargardt Disease v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712
Macular Dystrophy/Stargardt Disease v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBP3 were set to ?Retinitis pigmentosa 66, 615233
Macular Dystrophy/Stargardt Disease v0.0 PRPH2 Bryony Thompson gene: PRPH2 was added
gene: PRPH2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRPH2 were set to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880
Macular Dystrophy/Stargardt Disease v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657; Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051
Macular Dystrophy/Stargardt Disease v0.0 PRDM13 Bryony Thompson gene: PRDM13 was added
gene: PRDM13 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665
Phenotypes for gene: PRDM13 were set to Macular dystrophy, North Carolina type, MIM#136550
Macular Dystrophy/Stargardt Disease v0.0 OTX2 Bryony Thompson gene: OTX2 was added
gene: OTX2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to autosomal-dominant pattern dystrophy of the retinal pigment epithelium; early onset retinal dystrophy; Microphthalmia, syndromic 5, 610125
Macular Dystrophy/Stargardt Disease v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Macular Dystrophy/Stargardt Disease_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; Macular dystrophy with central cone involvement, 616170
Macular Dystrophy/Stargardt Disease v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56; Maculopathy, IMPG2 - related
Macular Dystrophy/Stargardt Disease v0.0 IMPG1 Bryony Thompson gene: IMPG1 was added
gene: IMPG1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IMPG1 were set to Macular dystrophy, vitelliform, 4
Macular Dystrophy/Stargardt Disease v0.0 HMCN1 Bryony Thompson gene: HMCN1 was added
gene: HMCN1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HMCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMCN1 were set to Macular Degeneration
Macular Dystrophy/Stargardt Disease v0.0 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827
Macular Dystrophy/Stargardt Disease v0.0 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921
Macular Dystrophy/Stargardt Disease v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Macular Dystrophy/Stargardt Disease v0.0 EFEMP1 Bryony Thompson gene: EFEMP1 was added
gene: EFEMP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFEMP1 were set to Inherited macular dystrophy (Doyne/dominant drusen)
Macular Dystrophy/Stargardt Disease v0.0 DRAM2 Bryony Thompson gene: DRAM2 was added
gene: DRAM2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DRAM2 were set to Cone-rod dystrophy 21, MIM#616502
Macular Dystrophy/Stargardt Disease v0.0 CTNNA1 Bryony Thompson gene: CTNNA1 was added
gene: CTNNA1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNA1 were set to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
Macular Dystrophy/Stargardt Disease v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Macular Dystrophy/Stargardt Disease v0.0 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 -3; Achromatopsia-3, 262300; Stargardt Disease, Recessive
Macular Dystrophy/Stargardt Disease v0.0 CFH Bryony Thompson gene: CFH was added
gene: CFH was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFH were set to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700
Macular Dystrophy/Stargardt Disease v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Macular Dystrophy/Stargardt Disease v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Macular Dystrophy/Stargardt Disease v0.0 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant, 605670; Retinitis pigmentosa
Macular Dystrophy/Stargardt Disease v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Best macular dystrophy, 153700; Vitelliform macular dystrophy, adult-onset, 608161; Vitreoretinochoroidopathy, 193220; Bestrophinopathy, 611809; Maculopathy, bull's-eye; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Macular Dystrophy/Stargardt Disease v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Retinitis pigmentosa 19, 601718; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Macular degeneration, age-related, 2, 153800; Cone-rod dystrophy 3, 604116; Stargardt disease 1, 248200
Macular Dystrophy/Stargardt Disease v0.0 Bryony Thompson Added panel Macular Dystrophy/Stargardt Disease_RMH
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.23 CABP2 Zornitza Stark Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
Deafness_IsolatedAndComplex v0.22 CABP2 Zornitza Stark Publications for gene: CABP2 were set to
Deafness_IsolatedAndComplex v0.21 CABP2 Zornitza Stark Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.20 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from Deafness, autosomal recessive 44, MIM# 610154 to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Deafness_IsolatedAndComplex v0.19 ADCY1 Zornitza Stark Publications for gene: ADCY1 were set to
Deafness_IsolatedAndComplex v0.18 ADCY1 Zornitza Stark Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.17 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.16 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.16 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Marked gene: ACTB as ready
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.15 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Deafness_IsolatedAndComplex v0.14 ACTB Zornitza Stark Publications for gene: ACTB were set to
Deafness_IsolatedAndComplex v0.13 ACTB Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other
Deafness_IsolatedAndComplex v0.12 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.18 SHANK1 Sebastian Lunke gene: SHANK1 was added
gene: SHANK1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK1 were set to 25188300; 22503632
Penetrance for gene: SHANK1 were set to unknown
Review for gene: SHANK1 was set to GREEN
Added comment: SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1450 SHANK1 Sebastian Lunke reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 22503632, 25188300; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Classified gene: CRB2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.29 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, MIM# 219730
Review for gene: CRB2 was set to GREEN
Added comment: Three unrelated families described.
Sources: Expert list
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
Renal Macrocystic Disease v0.15 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.14 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 25719457; 15882279
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
Review for gene: COL4A1 was set to GREEN
Added comment: Large renal cysts described in multiple individuals with this condition.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Renal Ciliopathies and Nephronophthisis v0.27 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM#614615; Orofaciodigital syndrome VI, MIM# 277170
Renal Ciliopathies and Nephronophthisis v0.25 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM#614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Renal Ciliopathies and Nephronophthisis v0.22 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Renal Ciliopathies and Nephronophthisis v0.21 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Marked gene: ATXN10 as ready
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.18 ATXN10 Zornitza Stark Publications for gene: ATXN10 were set to
Renal Ciliopathies and Nephronophthisis v0.17 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Classified gene: ATXN10 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: 21565611; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.465 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Mendeliome v0.465 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Mendeliome v0.464 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Mendeliome v0.463 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.462 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Mendeliome v0.462 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.8 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Cataract v0.8 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.8 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Cataract v0.7 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Cataract v0.6 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.5 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Cataract v0.5 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.51 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Microcephaly v0.51 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.51 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Microcephaly v0.50 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Microcephaly v0.49 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.48 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Microcephaly v0.48 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.47 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.460 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.56 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1448 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Regression v0.37 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.37 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.36 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Hydrops fetalis v0.104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.104 PTH1R Zornitza Stark Classified gene: PTH1R as Green List (high evidence)
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Marked gene: PKLR as ready
Hydrops fetalis v0.103 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate Kinase deficiency, MIM# 266200
Hydrops fetalis v0.102 PKLR Zornitza Stark Classified gene: PKLR as Green List (high evidence)
Hydrops fetalis v0.102 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Classified gene: RPL11 as Red List (low evidence)
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1447 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Intellectual disability syndromic and non-syndromic v0.1446 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Intellectual disability syndromic and non-syndromic v0.1445 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.100 RPL11 George McGillivray gene: RPL11 was added
gene: RPL11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7
Review for gene: RPL11 was set to RED
Added comment: I can't find a published link between RPL11 and hydrops fetalis.
However, there are 8 Case reports of DBA (molecular type not specified) with hydrops fetalis so this gene/ DBA phenotype should be revisited in future
PMIDs 8926615;8734811;8734811;9166327;3140685;14655096;3222219;15004307;17828794
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency
Hydrops fetalis v0.100 PTH1R George McGillivray gene: PTH1R was added
gene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray gene: PKLR was added
gene: PKLR was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 29549173; 8285758; 10923218
Review for gene: PKLR was set to GREEN
Added comment: PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Dystonia and Chorea v0.10 GRN Bryony Thompson Marked gene: GRN as ready
Dystonia and Chorea v0.10 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Dystonia and Chorea v0.10 GRN Bryony Thompson Classified gene: GRN as Green List (high evidence)
Dystonia and Chorea v0.10 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Dystonia and Chorea v0.9 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRN were set to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485
Review for gene: GRN was set to GREEN
Added comment: Dystonia is a reported feature of the phenotype
Sources: Expert list
Dystonia and Chorea v0.8 GM2A Bryony Thompson Marked gene: GM2A as ready
Dystonia and Chorea v0.8 GM2A Bryony Thompson Gene: gm2a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.8 GM2A Bryony Thompson Classified gene: GM2A as Green List (high evidence)
Dystonia and Chorea v0.8 GM2A Bryony Thompson Gene: gm2a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.7 GM2A Bryony Thompson gene: GM2A was added
gene: GM2A was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM#272750
Review for gene: GM2A was set to GREEN
Added comment: Dystonia is a feature of the phenotype
Sources: Expert list
Deafness_IsolatedAndComplex v0.11 ACTB Lilian Downie reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25052316, PMID: 29788902; Phenotypes: Baraitser-Winter syndrome, Deafness-dystonia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.6 GALT Bryony Thompson Marked gene: GALT as ready
Dystonia and Chorea v0.6 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Dystonia and Chorea v0.6 GALT Bryony Thompson Classified gene: GALT as Green List (high evidence)
Dystonia and Chorea v0.6 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Dystonia and Chorea v0.5 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 30718057
Phenotypes for gene: GALT were set to Galactosemia, MIM#230400
Review for gene: GALT was set to GREEN
Added comment: Dystonia can be a feature of the phenotype (PMID: 30718057).
Sources: Expert list
Dystonia and Chorea v0.4 FUCA1 Bryony Thompson Marked gene: FUCA1 as ready
Dystonia and Chorea v0.4 FUCA1 Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.4 FUCA1 Bryony Thompson Classified gene: FUCA1 as Green List (high evidence)
Dystonia and Chorea v0.4 FUCA1 Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.3 FUCA1 Bryony Thompson gene: FUCA1 was added
gene: FUCA1 was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUCA1 were set to 31064022
Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM#230000
Review for gene: FUCA1 was set to GREEN
Added comment: Dystonia can be a feature of the phenotype. Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022).
Sources: Expert list
Dystonia and Chorea v0.2 ARSA Bryony Thompson Marked gene: ARSA as ready
Dystonia and Chorea v0.2 ARSA Bryony Thompson Gene: arsa has been classified as Green List (High Evidence).
Dystonia and Chorea v0.2 ARSA Bryony Thompson Classified gene: ARSA as Green List (high evidence)
Dystonia and Chorea v0.2 ARSA Bryony Thompson Gene: arsa has been classified as Green List (High Evidence).
Dystonia and Chorea v0.1 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Dystonia - complex_RMH. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100
Review for gene: ARSA was set to GREEN
Added comment: Dystonia is a feature of the phenotype
Sources: Expert list
Hydrops fetalis v0.100 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.99 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Hydrops fetalis v0.99 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.99 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Hydrops fetalis v0.98 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia
Hydrops fetalis v0.97 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Hydrops fetalis v0.97 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Skeletal Muscle Channelopathies v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4A were set to Hyperkalemic Periodic Paralysis; Hypokalemic periodic paralysis, type 2, 613; Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic Periodic Paralysis; Episodic weakness; Myotonia; Potassium-Aggravated Myotonia; Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, acetazolamide-responsive, 614198
Skeletal Muscle Channelopathies v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RYR1 were set to Malignant hyperthermia
Skeletal Muscle Channelopathies v0.0 KCNJ2 Bryony Thompson gene: KCNJ2 was added
gene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1
Skeletal Muscle Channelopathies v0.0 CLCN1 Bryony Thompson gene: CLCN1 was added
gene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive
Skeletal Muscle Channelopathies v0.0 CASQ1 Bryony Thompson gene: CASQ1 was added
gene: CASQ1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with casq1 aggregates
Skeletal Muscle Channelopathies v0.0 CACNB1 Bryony Thompson gene: CACNB1 was added
gene: CACNB1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CACNB1 was set to
Publications for gene: CACNB1 were set to 27832566; 8943043; 29212769
Phenotypes for gene: CACNB1 were set to ?Malignant hyperthermia susceptibility
Skeletal Muscle Channelopathies v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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 type 5; Hypokalemic periodic paralysis, type 1, 170400
Skeletal Muscle Channelopathies v0.0 ATP2A1 Bryony Thompson gene: ATP2A1 was added
gene: ATP2A1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Skeletal Muscle Channelopathies v0.0 Bryony Thompson Added panel Skeletal Muscle Channelopathies_RMH
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.93 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Hydrops fetalis v0.93 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.93 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Central core disease, MIM# 117000; Multiple pterygium syndrome
Hydrops fetalis v0.92 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Hydrops fetalis v0.91 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: ; Mode of pathogenicity: None; Publications: 28543167, 26932181; Phenotypes: Central core disease, MIM# 117000, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Hydrops fetalis v0.90 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.90 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 2, MIM# 618388 to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Hydrops fetalis v0.88 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.88 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.88 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.87 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.86 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.0 TEK Bryony Thompson gene: TEK was added
gene: TEK was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal 600195
Vascular Malformations_Germline v0.0 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SPS; Heritable pulmonary arterial hypertension; Small patella syndrome; Ischiocoxopodopatellar syndrome, 147891; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 STAMBP Bryony Thompson gene: STAMBP was added
gene: STAMBP was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome
Vascular Malformations_Germline v0.0 SOX18 Bryony Thompson gene: SOX18 was added
gene: SOX18 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Vascular Malformations_Germline v0.0 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2, 615342; Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Vascular Malformations_Germline v0.0 RASA1 Bryony Thompson gene: RASA1 was added
gene: RASA1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354
Vascular Malformations_Germline v0.0 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome
Vascular Malformations_Germline v0.0 PIK3CA Bryony Thompson gene: PIK3CA was added
gene: PIK3CA was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Vascular Malformations_Germline v0.0 PIEZO1 Bryony Thompson gene: PIEZO1 was added
gene: PIEZO1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO1 were set to Lymphedema, hereditary, III
Vascular Malformations_Germline v0.0 PDCD10 Bryony Thompson gene: PDCD10 was added
gene: PDCD10 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3
Vascular Malformations_Germline v0.0 KRIT1 Bryony Thompson gene: KRIT1 was added
gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Vascular Malformations_Germline v0.0 KIF11 Bryony Thompson gene: KIF11 was added
gene: KIF11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Vascular Malformations_Germline v0.0 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 GNA11 Bryony Thompson gene: GNA11 was added
gene: GNA11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNA11 was set to
Publications for gene: GNA11 were set to 30677207
Phenotypes for gene: GNA11 were set to Somatic hemangioma
Vascular Malformations_Germline v0.0 GLMN Bryony Thompson gene: GLMN was added
gene: GLMN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to Glomuvenous malformations
Vascular Malformations_Germline v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJC2 were set to Lymphatic malformation 3
Vascular Malformations_Germline v0.0 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
Vascular Malformations_Germline v0.0 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to Lymphedema, primary, with myelodysplasia
Vascular Malformations_Germline v0.0 FOXC2 Bryony Thompson gene: FOXC2 was added
gene: FOXC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome
Vascular Malformations_Germline v0.0 FLT4 Bryony Thompson gene: FLT4 was added
gene: FLT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLT4 were set to Lymphedema, hereditary I (Milory disease)
Vascular Malformations_Germline v0.0 FAT4 Bryony Thompson gene: FAT4 was added
gene: FAT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2
Vascular Malformations_Germline v0.0 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, MIM#618196
Vascular Malformations_Germline v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604)
Vascular Malformations_Germline v0.0 ELMO2 Bryony Thompson gene: ELMO2 was added
gene: ELMO2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Vascular Malformations_Germline v0.0 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2AK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810; pulmonary capillary hemangiomatosis; Heritable pulmonary arterial hypertension; PVOD; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; PCH; HPAH
Vascular Malformations_Germline v0.0 CCM2 Bryony Thompson gene: CCM2 was added
gene: CCM2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations
Vascular Malformations_Germline v0.0 CCBE1 Bryony Thompson gene: CCBE1 was added
gene: CCBE1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, MIM#235510
Vascular Malformations_Germline v0.0 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, 615343; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension
Vascular Malformations_Germline v0.0 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Vascular Malformations_Germline v0.0 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Vascular Malformations_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMPR1B were set to 22374147
Phenotypes for gene: BMPR1B were set to Idiopathic pulmonary arterial hypertension; IPAH
Vascular Malformations_Germline v0.0 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A3 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia
Vascular Malformations_Germline v0.0 Bryony Thompson Added panel Vascular Malformations_RMH
Hydrops fetalis v0.86 MUSK Zornitza Stark Marked gene: MUSK as ready
Hydrops fetalis v0.86 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Hydrops fetalis v0.86 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150
Hydrops fetalis v0.85 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.83 MUSK Zornitza Stark Publications for gene: MUSK were set to
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31750350, 25537362; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.82 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.80 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Hydrops fetalis v0.79 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Classified gene: KLHL40 as Amber List (moderate evidence)
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.77 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: None; Publications: 25721947; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus; short rib polydactyly to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.76 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to 26166481
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to KIAA0586
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Added comment: Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated.
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.73 KMT2D George McGillivray gene: KMT2D was added
gene: KMT2D was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 30293990; 27568880; 15690368
Phenotypes for gene: KMT2D were set to Kabuki syndrome
Review for gene: KMT2D was set to GREEN
Added comment: In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D.
Sources: Expert list
Leukodystrophy v0.0 WARS2 Bryony Thompson gene: WARS2 was added
gene: WARS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Leukodystrophy v0.0 VPS11 Bryony Thompson gene: VPS11 was added
gene: VPS11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Leukodystrophy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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); Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 TUFM Bryony Thompson gene: TUFM was added
gene: TUFM was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 TACO1 Bryony Thompson gene: TACO1 was added
gene: TACO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
Leukodystrophy v0.0 SUMF1 Bryony Thompson gene: SUMF1 was added
gene: SUMF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency
Leukodystrophy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Leukodystrophy v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 SLC25A4 Bryony Thompson gene: SLC25A4 was added
gene: SLC25A4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 SLC25A12 Bryony Thompson gene: SLC25A12 was added
gene: SLC25A12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral 612949
Leukodystrophy v0.0 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
Leukodystrophy v0.0 SDHB Bryony Thompson gene: SDHB was added
gene: SDHB was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency
Leukodystrophy v0.0 SDHAF1 Bryony Thompson gene: SDHAF1 was added
gene: SDHAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011
Leukodystrophy v0.0 SDHA Bryony Thompson gene: SDHA was added
gene: SDHA was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011
Leukodystrophy v0.0 SCP2 Bryony Thompson gene: SCP2 was added
gene: SCP2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724
Leukodystrophy v0.0 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Leukodystrophy v0.0 SCO1 Bryony Thompson gene: SCO1 was added
gene: SCO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency 220110
Leukodystrophy v0.0 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RRM2B was set to 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
Leukodystrophy v0.0 RARS Bryony Thompson gene: RARS was added
gene: RARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140
Leukodystrophy v0.0 PYCR2 Bryony Thompson gene: PYCR2 was added
gene: PYCR2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420
Leukodystrophy v0.0 PC Bryony Thompson gene: PC was added
gene: PC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM#266150
Leukodystrophy v0.0 NUBPL Bryony Thompson gene: NUBPL was added
gene: NUBPL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Leukodystrophy v0.0 NFU1 Bryony Thompson gene: NFU1 was added
gene: NFU1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 29441221
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Leukodystrophy v0.0 NDUFV1 Bryony Thompson gene: NDUFV1 was added
gene: NDUFV1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NDUFS8 Bryony Thompson gene: NDUFS8 was added
gene: NDUFS8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NDUFS7 Bryony Thompson gene: NDUFS7 was added
gene: NDUFS7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; Leigh syndrome; Genetic leukoencephalopathies: mitochondrial disorders; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NDUFS4 Bryony Thompson gene: NDUFS4 was added
gene: NDUFS4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NDUFS2 Bryony Thompson gene: NDUFS2 was added
gene: NDUFS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome; Mitochondrial Leukoencephalopathy; Leigh syndrome associated with mitochondrial complex I deficiency
Leukodystrophy v0.0 NDUFS1 Bryony Thompson gene: NDUFS1 was added
gene: NDUFS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NDUFAF3 Bryony Thompson gene: NDUFAF3 was added
gene: NDUFAF3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency 252010
Leukodystrophy v0.0 NDUFAF1 Bryony Thompson gene: NDUFAF1 was added
gene: NDUFAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 NAXE Bryony Thompson gene: NAXE was added
gene: NAXE was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Leukodystrophy v0.0 MTFMT Bryony Thompson gene: MTFMT was added
gene: MTFMT was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 23499752; 614947
Leukodystrophy v0.0 LYRM7 Bryony Thompson gene: LYRM7 was added
gene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Leukodystrophy v0.0 ISCA2 Bryony Thompson gene: ISCA2 was added
gene: ISCA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370
Leukodystrophy v0.0 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7
Leukodystrophy v0.0 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330
Leukodystrophy v0.0 HSPD1 Bryony Thompson gene: HSPD1 was added
gene: HSPD1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPD1 was set to
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233
Leukodystrophy v0.0 HSD17B4 Bryony Thompson gene: HSD17B4 was added
gene: HSD17B4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome-Associated Disorders & Zellweger Syndrome; D-bifunctional protein deficiency
Leukodystrophy v0.0 HIKESHI Bryony Thompson gene: HIKESHI was added
gene: HIKESHI was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#616881
Leukodystrophy v0.0 GFM1 Bryony Thompson gene: GFM1 was added
gene: GFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 FUCA1 Bryony Thompson gene: FUCA1 was added
gene: FUCA1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Leukodystrophy - paediatric_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
Leukodystrophy v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532
Leukodystrophy v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#612319
Leukodystrophy v0.0 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Mitochondrial Leukoencephalopathy; Glutaric Acidemia IIC
Leukodystrophy v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne Syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 DPYD Bryony Thompson gene: DPYD was added
gene: DPYD was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; 5-fluorouracil toxicity 274270
Leukodystrophy v0.0 DGUOK Bryony Thompson gene: DGUOK was added
gene: DGUOK was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3
Leukodystrophy v0.0 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria
Leukodystrophy v0.0 COX15 Bryony Thompson gene: COX15 was added
gene: COX15 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders
Leukodystrophy v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
Leukodystrophy v0.0 COQ2 Bryony Thompson gene: COQ2 was added
gene: COQ2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1
Leukodystrophy v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186
Leukodystrophy v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM#614129
Leukodystrophy v0.0 CIC Bryony Thompson gene: CIC was added
gene: CIC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600
Leukodystrophy v0.0 BOLA3 Bryony Thompson gene: BOLA3 was added
gene: BOLA3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299
Leukodystrophy v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 AIMP1 Bryony Thompson gene: AIMP1 was added
gene: AIMP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600
Leukodystrophy v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 28842795
Phenotypes for gene: AIFM1 were set to hypomyelinating leukodystrophy and spondylometaphyseal dysplasia
Leukodystrophy v0.0 ACOX1 Bryony Thompson gene: ACOX1 was added
gene: ACOX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Leukodystrophy v0.0 TMEM106B Bryony Thompson gene: TMEM106B was added
gene: TMEM106B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964
Leukodystrophy v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, 614879
Leukodystrophy v0.0 PEX6 Bryony Thompson gene: PEX6 was added
gene: PEX6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863
Leukodystrophy v0.0 PEX5 Bryony Thompson gene: PEX5 was added
gene: PEX5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370
Leukodystrophy v0.0 PEX3 Bryony Thompson gene: PEX3 was added
gene: PEX3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882; ?Peroxisome biogenesis disorder 10B, 617370
Leukodystrophy v0.0 PEX26 Bryony Thompson gene: PEX26 was added
gene: PEX26 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873
Leukodystrophy v0.0 PEX2 Bryony Thompson gene: PEX2 was added
gene: PEX2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger) 614866
Leukodystrophy v0.0 PEX19 Bryony Thompson gene: PEX19 was added
gene: PEX19 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886
Leukodystrophy v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877
Leukodystrophy v0.0 PEX14 Bryony Thompson gene: PEX14 was added
gene: PEX14 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Leukodystrophy v0.0 PEX13 Bryony Thompson gene: PEX13 was added
gene: PEX13 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883
Leukodystrophy v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510
Leukodystrophy v0.0 PEX11B Bryony Thompson gene: PEX11B was added
gene: PEX11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B, 614920
Leukodystrophy v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871
Leukodystrophy v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Leukodystrophy v0.0 OCRL Bryony Thompson gene: OCRL was added
gene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000
Leukodystrophy v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM#617235
Leukodystrophy v0.0 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450
Leukodystrophy v0.0 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM#616339
Leukodystrophy v0.0 Bryony Thompson Added panel Leukodystrophy - paediatric_RMH
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Hurler syndrome, MPS 1 to Hurler syndrome, MPS 1
Hydrops fetalis v0.73 IDUA Zornitza Stark Marked gene: IDUA as ready
Hydrops fetalis v0.73 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Hurler syndrome, MPS 1
Hydrops fetalis v0.72 IDUA Zornitza Stark Publications for gene: IDUA were set to
Hydrops fetalis v0.71 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.70 IDUA Zornitza Stark Classified gene: IDUA as Amber List (moderate evidence)
Hydrops fetalis v0.70 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.69 IDUA Zornitza Stark reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Hurler syndrome, MPS 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.69 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Hydrops fetalis v0.69 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.69 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.68 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Hydrops fetalis v0.68 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 George McGillivray reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: None; Publications: 9490563, 7711721; Phenotypes: congenital dyserythropoietic anaemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.459 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Mendeliome v0.459 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.459 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anemia
Mendeliome v0.458 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Mendeliome v0.457 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.456 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Mendeliome v0.456 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.455 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.67 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Hydrops fetalis v0.67 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anaemia
Hydrops fetalis v0.66 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Hydrops fetalis v0.65 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.64 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Hydrops fetalis v0.64 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.63 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.63 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Hydrops fetalis v0.62 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.61 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Hydrops fetalis v0.60 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.59 DOK7 Zornitza Stark Classified gene: DOK7 as Amber List (moderate evidence)
Hydrops fetalis v0.59 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.58 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31880392, 19261599; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.58 COLQ Zornitza Stark Marked gene: COLQ as ready
Hydrops fetalis v0.58 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.58 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, MIM# 603034 to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.56 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.55 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Hydrops fetalis v0.55 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.54 COLQ Zornitza Stark reviewed gene: COLQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.54 CHRNG Zornitza Stark commented on gene: CHRNG: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.54 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Hydrops fetalis v0.54 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Hydrops fetalis v0.54 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.53 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Hydrops fetalis v0.52 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.52 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from to Congenital myasthenic syndromes
Hydrops fetalis v0.51 CHRNE Zornitza Stark Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.50 CHRNE Zornitza Stark Classified gene: CHRNE as Red List (low evidence)
Hydrops fetalis v0.50 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.49 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndromes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.49 KLF1 George McGillivray reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Congenital Dyserythropoietic Anemia Type IV, severe nonspherocytic hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.49 CHRND Zornitza Stark Marked gene: CHRND as ready
Hydrops fetalis v0.49 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Hydrops fetalis v0.49 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.48 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRND Zornitza Stark commented on gene: CHRND: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.47 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.46 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 KIAA0586 George McGillivray gene: KIAA0586 was added
gene: KIAA0586 was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to KIAA0586
Phenotypes for gene: KIAA0586 were set to Hydrolethalus
Review for gene: KIAA0586 was set to AMBER
Added comment: 20191230:
PMID 26166481 reports a single case from 8 affected from 4 families
Sources: Other
Hydrops fetalis v0.45 KAT6B George McGillivray gene: KAT6B was added
gene: KAT6B was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: KAT6B was set to RED
Added comment: 20191230- Currently on the Greenwood Genetic Centre List but no Pubmed evidence that I can find
Sources: Other
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Added comment: Comment when marking as ready: This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 30690204
Hydrops fetalis v0.43 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Hydrops fetalis v0.42 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.41 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.41 ALG1 Zornitza Stark Classified gene: ALG1 as Amber List (moderate evidence)
Hydrops fetalis v0.41 ALG1 Zornitza Stark Added comment: Comment on list classification: CDGs are a recognised cause of nonimmune fetal hydrops; however, single report of ALG1 and hydrops identified.
Hydrops fetalis v0.41 ALG1 Zornitza Stark Gene: alg1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Classified gene: TRIP11 as Amber List (moderate evidence)
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.39 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP11 were set to 30951048; 8897040
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, MIM# 200600
Review for gene: TRIP11 was set to AMBER
Added comment: Case reports of hydrops in radiographically diagnosed babies.
Sources: Expert list
Hydrops fetalis v0.38 TAZ Zornitza Stark Marked gene: TAZ as ready
Hydrops fetalis v0.38 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.38 TAZ Zornitza Stark Publications for gene: TAZ were set to 29476731; 31598953
Hydrops fetalis v0.37 TAZ Zornitza Stark Classified gene: TAZ as Green List (high evidence)
Hydrops fetalis v0.37 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.36 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29476731; 31598953
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Review for gene: TAZ was set to GREEN
Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.35 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 31497481
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, MIM# 272200
Review for gene: SUMF1 was set to RED
Added comment: Single case report found of hydrops in this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence)
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.33 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 31880411
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, MIM# 600972
Review for gene: SLC26A2 was set to AMBER
Added comment: Hydrops can be a presenting feature of this skeletal dysplasia, one case report found.
Sources: Expert list
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Added comment: Comment on list classification: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.31 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 30838783; 27475004
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to GREEN
Added comment: Hydrops can be a presenting feature.
Sources: Expert list
Hydrops fetalis v0.30 PIGA Zornitza Stark Marked gene: PIGA as ready
Hydrops fetalis v0.30 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Hydrops fetalis v0.30 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Review for gene: PIGA was set to RED
Added comment: Cannot find specific reports of hydrops though it is listed as a feature in OMIM.
Sources: Expert list
Hydrops fetalis v0.29 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.29 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 11895570; 11494295
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
Added comment: Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Hydrops fetalis v0.28 MVK Zornitza Stark Marked gene: MVK as ready
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.27 MVK Zornitza Stark Publications for gene: MVK were set to 27012807; 28603204; 23146290
Hydrops fetalis v0.26 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.26 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.26 MVK Zornitza Stark Publications for gene: MVK were set to 27012807
Hydrops fetalis v0.25 MVK Zornitza Stark Classified gene: MVK as Amber List (moderate evidence)
Hydrops fetalis v0.25 MVK Zornitza Stark Added comment: Comment on list classification: Unclear how many cases have presented with hydrops, mostly historical literature.
Hydrops fetalis v0.25 MVK Zornitza Stark Gene: mvk has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.24 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377
Review for gene: MVK was set to GREEN
Added comment: Hydrops described in severe presentations of this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.23 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 31420886
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa , MIM#212066
Review for gene: MGAT2 was set to RED
Added comment: One report of hydrops as a presenting feature, though a number of CDGs have been reported as presenting with hydrops
Sources: Expert list
Hydrops fetalis v0.22 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.22 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.21 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Hydrops fetalis_VCGS. Sources: Expert list
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 10700180
Phenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835
Review for gene: GATA1 was set to GREEN
Added comment: Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.19 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 14735596; 10215064; 9856557
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400
Review for gene: DHCR7 was set to GREEN
Added comment: Nuchal oedema in 3/30 cases in a series, PMID 14735596; another case report 10215064; another family reported in 9856557. Rare manifestation of relatively common condition.
Sources: Expert list
Hydrops fetalis v0.18 COG6 Zornitza Stark Marked gene: COG6 as ready
Hydrops fetalis v0.18 COG6 Zornitza Stark Gene: cog6 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.18 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 31420886
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type Iil, MIM#614576
Review for gene: COG6 was set to RED
Added comment: One family reported with hydrops, though hydrops is a presenting feature of a number of CDGs.
Sources: Expert list
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Classified gene: COL2A1 as Green List (high evidence)
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.16 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Review for gene: COL2A1 was set to GREEN
Added comment: Hydrops is a presenting feature.
Sources: Expert list
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Hydrops fetalis v0.15 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKA was set to Other
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKA was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.14 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKB was set to Other
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKB was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Classified gene: CDAN1 as Green List (high evidence)
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.12 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, MIM#224120
Review for gene: CDAN1 was set to GREEN
Added comment: Can present with fetal hydrops.
Sources: Expert list
Hydrops fetalis v0.11 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Hydrops fetalis v0.11 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.11 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 21654728; 20358610
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, MIM#251450
Review for gene: CANT1 was set to RED
Added comment: Hydrops is a rare manifestation reported in Debuquois dysplasia, two families.
Sources: Expert list
Hydrops fetalis v0.10 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.10 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.9 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 31420886
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776
Review for gene: ALG9 was set to GREEN
Added comment: Hydrops reported in 20% of individuals in a review.
Sources: Expert list
Hydrops fetalis v0.8 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.8 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.8 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Hydrops fetalis v0.7 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Hydrops fetalis v0.7 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.6 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 26066342
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104
Review for gene: ALG8 was set to GREEN
Added comment: Sources: Expert list
Hydrops fetalis v0.5 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Hydrops fetalis v0.5 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.5 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Hydrops fetalis v0.4 ALG1 Zornitza Stark Classified gene: ALG1 as Green List (high evidence)
Hydrops fetalis v0.4 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.3 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, MIM#608540
Review for gene: ALG1 was set to GREEN
Added comment: Hydrops fetalis is part of the phenotype.
Sources: Expert list
Hydrops fetalis v0.2 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.2 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.1 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.1 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.0 AHCY Zornitza Stark Marked gene: AHCY as ready
Hydrops fetalis v0.0 AHCY Zornitza Stark Gene: ahcy has been removed from the panel.
Hydrops fetalis v0.0 AHCY George McGillivray gene: AHCY was added
gene: AHCY was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to 613752
Review for gene: AHCY was set to AMBER
Added comment: PMID 30121674:
A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension...
PMID 20852937:
This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly
Sources: Expert list
Regression v0.35 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Regression v0.35 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1, MIM#302500 to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.34 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Regression v0.33 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.32 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Regression v0.32 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.31 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.455 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Mendeliome v0.455 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.455 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Mendeliome v0.454 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Mendeliome v0.453 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.452 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Mendeliome v0.452 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.5 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Paroxysmal Dyskinesia v0.4 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Paroxysmal Dyskinesia v0.3 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.2 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.1 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.31 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Regression v0.31 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.31 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Regression v0.30 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Regression v0.29 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.28 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Regression v0.28 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.27 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.451 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Mendeliome v0.451 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Mendeliome v0.450 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.449 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Mendeliome v0.449 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.448 CACNB4 Zornitza Stark Added comment: Comment on phenotypes: One family with episodic ataxia; susceptibility locus for different types of epilepsy.
Mendeliome v0.448 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Episodic ataxia, type 5, MIM#613855
Mendeliome v0.447 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Brain Channelopathies v0.3 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Brain Channelopathies v0.2 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Brain Channelopathies v0.1 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Brain Channelopathies v0.1 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Brain Channelopathies v0.0 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.4 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Alternating Hemiplegia and Hemiplegic Migraine v0.3 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Alternating Hemiplegia and Hemiplegic Migraine v0.2 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.1 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.1 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.0 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.447 CAPN1 Zornitza Stark Marked gene: CAPN1 as ready
Mendeliome v0.447 CAPN1 Zornitza Stark Gene: capn1 has been classified as Green List (High Evidence).
Mendeliome v0.447 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from to Spastic paraplegia 76, autosomal recessive, MIM#616907
Mendeliome v0.446 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to
Mendeliome v0.445 CAPN1 Zornitza Stark Mode of inheritance for gene: CAPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CAPN1 Zornitza Stark reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400; Phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Renal Ciliopathies and Nephronophthisis v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.444 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Mendeliome v0.444 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.444 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Mendeliome v0.443 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Ciliopathies v0.14 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ciliopathies v0.14 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.442 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Mendeliome v0.442 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Mendeliome v0.441 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Ciliopathies v0.13 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Ciliopathies v0.12 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Ciliopathies v0.12 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.11 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.441 COA7 Zornitza Stark Marked gene: COA7 as ready
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.441 COA7 Zornitza Stark Classified gene: COA7 as Green List (high evidence)
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.440 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert list
Regression v0.27 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.439 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.4 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Hydrocephalus_Ventriculomegaly v0.3 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Hydrocephalus_Ventriculomegaly v0.2 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.1 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.0 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.438 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Mendeliome v0.438 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.438 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Mendeliome v0.437 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Mendeliome v0.436 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.435 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Mendeliome v0.435 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.434 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.26 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Regression v0.26 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.26 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.25 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Regression v0.24 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Regression v0.23 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Regression v0.23 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.22 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1443 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Intellectual disability syndromic and non-syndromic v0.1442 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1440 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1439 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
Intellectual disability syndromic and non-syndromic v0.1438 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1437 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1437 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1436 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.434 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mendeliome v0.434 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.434 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mendeliome v0.433 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.432 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
Mendeliome v0.431 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Mendeliome v0.431 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.430 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.22 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Regression v0.22 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.22 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Regression v0.22 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Regression v0.21 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.21 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Regression v0.21 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.20 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.430 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Mendeliome v0.430 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.430 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Mendeliome v0.429 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Mendeliome v0.428 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.427 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Mendeliome v0.427 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.426 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.0 YY1 Bryony Thompson gene: YY1 was added
gene: YY1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557
Dystonia and Chorea v0.0 WDR73 Bryony Thompson gene: WDR73 was added
gene: WDR73 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300
Dystonia and Chorea v0.0 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR45 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: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; beta-propeller protein-associated neurodegeneration; Dystonia
Dystonia and Chorea v0.0 VPS13A Bryony Thompson gene: VPS13A was added
gene: VPS13A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Dystonia and Chorea v0.0 VAC14 Bryony Thompson gene: VAC14 was added
gene: VAC14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054
Dystonia and Chorea v0.0 TPK1 Bryony Thompson gene: TPK1 was added
gene: TPK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); Dystonia
Dystonia and Chorea v0.0 TOR1AIP1 Bryony Thompson gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 25425325
Phenotypes for gene: TOR1AIP1 were set to Dystonia, cerebellar atrophy, and cardiomyopathy
Dystonia and Chorea v0.0 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Dystonia and Chorea v0.0 SYNJ1 Bryony Thompson gene: SYNJ1 was added
gene: SYNJ1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset
Dystonia and Chorea v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Dystonia - 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 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Dystonia
Dystonia and Chorea v0.0 SLC6A3 Bryony Thompson gene: SLC6A3 was added
gene: SLC6A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135
Dystonia and Chorea v0.0 SLC39A14 Bryony Thompson gene: SLC39A14 was added
gene: SLC39A14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
Dystonia and Chorea v0.0 SLC30A10 Bryony Thompson gene: SLC30A10 was added
gene: SLC30A10 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Dystonia and Chorea v0.0 SLC20A2 Bryony Thompson gene: SLC20A2 was added
gene: SLC20A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600; Dystonia
Dystonia and Chorea v0.0 SLC19A3 Bryony Thompson gene: SLC19A3 was added
gene: SLC19A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483; Dystonia
Dystonia and Chorea v0.0 SERAC1 Bryony Thompson gene: SERAC1 was added
gene: SERAC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Lesions in the basal ganglia
Dystonia and Chorea v0.0 QDPR Bryony Thompson gene: QDPR was added
gene: QDPR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency; Dystonia
Dystonia and Chorea v0.0 PTS Bryony Thompson gene: PTS was added
gene: PTS was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia
Dystonia and Chorea v0.0 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSEN1 were set to 28664294; 12810495; 15159497; 29316780
Phenotypes for gene: PSEN1 were set to Frontotemporal dementia; Dystonia
Dystonia and Chorea v0.0 PRKN Bryony Thompson gene: PRKN was added
gene: PRKN was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Parkinson disease, juvenile, type 2; Dystonia
Dystonia and Chorea v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Dystonia - 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 Parkinson disease 14, autosomal recessive 612953; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Dystonia and Chorea v0.0 PINK1 Bryony Thompson gene: PINK1 was added
gene: PINK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia
Dystonia and Chorea v0.0 PDGFRB Bryony Thompson gene: PDGFRB was added
gene: PDGFRB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to Dystonia; Basal ganglia calcification, idiopathic, 4 615007
Dystonia and Chorea v0.0 PDGFB Bryony Thompson gene: PDGFB was added
gene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Dystonia and Chorea v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia
Dystonia and Chorea v0.0 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2; Dystonia
Dystonia and Chorea v0.0 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1
Dystonia and Chorea v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Dystonia and Chorea v0.0 HTRA2 Bryony Thompson gene: HTRA2 was added
gene: HTRA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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 617248
Dystonia and Chorea v0.0 HPRT1 Bryony Thompson gene: HPRT1 was added
gene: HPRT1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome; Dystonia
Dystonia and Chorea v0.0 GNB1 Bryony Thompson gene: GNB1 was added
gene: GNB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB1 were set to 30194818
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42; Myoclonus dystonia
Dystonia and Chorea v0.0 GNAO1 Bryony Thompson gene: GNAO1 was added
gene: GNAO1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Dystonia and Chorea v0.0 GLB1 Bryony Thompson gene: GLB1 was added
gene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis
Dystonia and Chorea v0.0 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type 1; Dystonia
Dystonia and Chorea v0.0 FTL Bryony Thompson gene: FTL was added
gene: FTL was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159
Dystonia and Chorea v0.0 FOXG1 Bryony Thompson gene: FOXG1 was added
gene: FOXG1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant; Dystonia
Dystonia and Chorea v0.0 FBXO7 Bryony Thompson gene: FBXO7 was added
gene: FBXO7 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to juvenile parkinsonism; Dystonia
Dystonia and Chorea v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration
Dystonia and Chorea v0.0 DNAJC12 Bryony Thompson gene: DNAJC12 was added
gene: DNAJC12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Dystonia and Chorea v0.0 DLAT Bryony Thompson gene: DLAT was added
gene: DLAT was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348; Dystonia
Dystonia and Chorea v0.0 DDC Bryony Thompson gene: DDC was added
gene: DDC was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia
Dystonia and Chorea v0.0 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Dystonia and Chorea v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Dystonia - 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 Cholestanol storage disease; Dystonia
Dystonia and Chorea v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290
Dystonia and Chorea v0.0 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643
Dystonia and Chorea v0.0 CHMP2B Bryony Thompson gene: CHMP2B was added
gene: CHMP2B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHMP2B were set to 20301378
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia
Dystonia and Chorea v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia
Dystonia and Chorea v0.0 BCAP31 Bryony Thompson gene: BCAP31 was added
gene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
Dystonia and Chorea v0.0 AUH Bryony Thompson gene: AUH was added
gene: AUH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-Methylglutaconic aciduria type 1; Dystonia
Dystonia and Chorea v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Dystonia and Chorea v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia
Dystonia and Chorea v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Dystonia - 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 Ataxia telangiectasia; Dystonia
Dystonia and Chorea v0.0 ARX Bryony Thompson gene: ARX was added
gene: ARX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARX 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: ARX were set to Early infantile epileptic encephalopathy; Dystonia
Dystonia and Chorea v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Dystonia - 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-oculomotor apraxia type 1; Dystonia
Dystonia and Chorea v0.0 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Dystonia and Chorea v0.0 ACTB Bryony Thompson gene: ACTB was added
gene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 29788902; 28487785
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371
Dystonia and Chorea v0.0 Bryony Thompson Added panel Dystonia - complex_RMH
Mendeliome v0.426 FAT2 Zornitza Stark Marked gene: FAT2 as ready
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.426 FAT2 Zornitza Stark Classified gene: FAT2 as Amber List (moderate evidence)
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.425 FAT2 Zornitza Stark gene: FAT2 was added
gene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769
Review for gene: FAT2 was set to AMBER
Added comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert list
Mendeliome v0.424 GDAP2 Zornitza Stark Marked gene: GDAP2 as ready
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.424 GDAP2 Zornitza Stark Classified gene: GDAP2 as Green List (high evidence)
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.423 GDAP2 Zornitza Stark gene: GDAP2 was added
gene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP2 were set to 30084953
Phenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369
Review for gene: GDAP2 was set to GREEN
Added comment: Two families and animal model.
Sources: Expert list
Ataxia v0.8 DOCK3 Bryony Thompson Classified gene: DOCK3 as Green List (high evidence)
Ataxia v0.8 DOCK3 Bryony Thompson Gene: dock3 has been classified as Green List (High Evidence).
Ataxia v0.7 DOCK3 Bryony Thompson gene: DOCK3 was added
gene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Review for gene: DOCK3 was set to GREEN
Added comment: Ataxia is a feature of the phenotype
Sources: Expert list
Ataxia v0.6 ATP2B3 Bryony Thompson Marked gene: ATP2B3 as ready
Ataxia v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia v0.6 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Amber List (moderate evidence)
Ataxia v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia v0.5 ATP2B3 Bryony Thompson reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia v0.5 ARMC9 Zornitza Stark reviewed gene: ARMC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 30, MIM#617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.5 AP1S2 Bryony Thompson Marked gene: AP1S2 as ready
Ataxia v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia v0.5 AP1S2 Bryony Thompson Classified gene: AP1S2 as Green List (high evidence)
Ataxia v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia v0.4 AP1S2 Bryony Thompson gene: AP1S2 was added
gene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340
Review for gene: AP1S2 was set to GREEN
Added comment: Ataxia is part of the phenotype
Sources: Expert list
Ataxia v0.3 ACBD5 Bryony Thompson Marked gene: ACBD5 as ready
Ataxia v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.3 ACBD5 Bryony Thompson Classified gene: ACBD5 as Amber List (moderate evidence)
Ataxia v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Red List (low evidence)
Ataxia v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Red List (Low Evidence).
Ataxia v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409; 23105016
Phenotypes for gene: ACBD5 were set to Leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to AMBER
Added comment: 2 unrelated families and no functional evidence
Sources: Expert list
Mendeliome v0.422 MN1 Zornitza Stark Marked gene: MN1 as ready
Mendeliome v0.422 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Mendeliome v0.422 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.421 MN1 Zornitza Stark Publications for gene: MN1 were set to
Mendeliome v0.420 MN1 Zornitza Stark Mode of pathogenicity for gene: MN1 was changed from to Other
Mendeliome v0.419 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Marked gene: MN1 as ready
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1435 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MN1 were set to 31834374; 31839203
Phenotypes for gene: MN1 were set to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature
Mendeliome v0.418 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.418 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.417 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.25 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mendeliome v0.416 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.416 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.415 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1433 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Congenital Stationary Night Blindness v0.0 TRPM1 Bryony Thompson gene: TRPM1 was added
gene: TRPM1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Congenital Stationary Night Blindness v0.0 SLC24A1 Bryony Thompson gene: SLC24A1 was added
gene: SLC24A1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Congenital Stationary Night Blindness v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100; Leber Congenital Amaurosis; Leber congenital amaurosis 2
Congenital Stationary Night Blindness v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis punctata albescens; Retinitis pigmentosa; Night blindness, congenital stationary autosomal dominant 1
Congenital Stationary Night Blindness v0.0 RDH5 Bryony Thompson gene: RDH5 was added
gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa
Congenital Stationary Night Blindness v0.0 NYX Bryony Thompson gene: NYX was added
gene: NYX was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Congenital Stationary Night Blindness v0.0 LRIT3 Bryony Thompson gene: LRIT3 was added
gene: LRIT3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Congenital Stationary Night Blindness v0.0 GRM6 Bryony Thompson gene: GRM6 was added
gene: GRM6 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Congenital Stationary Night Blindness v0.0 GRK1 Bryony Thompson gene: GRK1 was added
gene: GRK1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411
Congenital Stationary Night Blindness v0.0 GPR179 Bryony Thompson gene: GPR179 was added
gene: GPR179 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Congenital Stationary Night Blindness v0.0 GNB3 Bryony Thompson gene: GNB3 was added
gene: GNB3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1h
Congenital Stationary Night Blindness v0.0 GNAT1 Bryony Thompson gene: GNAT1 was added
gene: GNAT1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444
Congenital Stationary Night Blindness v0.0 CHM Bryony Thompson gene: CHM was added
gene: CHM was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHM 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: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Congenital Stationary Night Blindness v0.0 CACNA2D4 Bryony Thompson gene: CACNA2D4 was added
gene: CACNA2D4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA2D4 were set to Retinal cone dystrophy 4, 610478; Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.0 CACNA1F Bryony Thompson gene: CACNA1F was added
gene: CACNA1F was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA1F 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: CACNA1F were set to Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Congenital Stationary Night Blindness v0.0 CABP4 Bryony Thompson gene: CABP4 was added
gene: CABP4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Congenital Stationary Night Blindness v0.0 Bryony Thompson Added panel Congenital Stationary Night Blindness_RMH
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.11 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600
Deafness_IsolatedAndComplex v0.10 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Deafness_IsolatedAndComplex v0.9 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.8 SLC26A4 Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Classified gene: YAP1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.30 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: YAP1 were set to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Review for gene: YAP1 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Marked gene: SMO as ready
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.28 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SMO was set to Other
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic, MIM#601707
Review for gene: SMO was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype of this somatic mosaic condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Classified gene: SALL4 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.26 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, MIM#607323
Review for gene: SALL4 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.24 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome, MIM#216360
Review for gene: RPGRIP1L was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Classified gene: PUF60 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.22 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM#615583
Review for gene: PUF60 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Marked gene: PORCN as ready
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Classified gene: PORCN as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.20 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PORCN was set to Other
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia, MIM#305600
Review for gene: PORCN was set to GREEN
Added comment: Anophthalmia, microphthalmia and coloboma are part of the phenotype of this XLD condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Classified gene: LRP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.18 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Classified gene: HMX1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.16 HMX1 Zornitza Stark gene: HMX1 was added
gene: HMX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to Oculoauricular syndrome, MIM#612109
Review for gene: HMX1 was set to GREEN
Added comment: Microphthalmia and ocular coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Classified gene: CLDN19 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.14 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
Review for gene: CLDN19 was set to GREEN
Added comment: Macular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Classified gene: CC2D2A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.12 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to COACH syndrome, MIM#216360
Review for gene: CC2D2A was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.10 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, MIM#218340
Review for gene: C12orf57 was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.8 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: Retinal coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Classified gene: ACTG1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.6 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM#614583
Review for gene: ACTG1 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Marked gene: ACTB as ready
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.4 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, MIM#243310
Review for gene: ACTB was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Retinitis pigmentosa v0.0 ZNF513 Bryony Thompson gene: ZNF513 was added
gene: ZNF513 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF513 were set to Retinitis pigmentosa 58, 613617
Retinitis pigmentosa v0.0 ZNF408 Bryony Thompson gene: ZNF408 was added
gene: ZNF408 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZNF408 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR)
Retinitis pigmentosa v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 18394578
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15
Retinitis pigmentosa v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 Retinitis pigmentosa 39, 613809; Usher syndrome, type 2A, 276901
Retinitis pigmentosa v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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
Retinitis pigmentosa v0.0 TULP1 Bryony Thompson gene: TULP1 was added
gene: TULP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132
Retinitis pigmentosa v0.0 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 209900
Retinitis pigmentosa v0.0 TRNT1 Bryony Thompson gene: TRNT1 was added
gene: TRNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa v0.0 SPATA7 Bryony Thompson gene: SPATA7 was added
gene: SPATA7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber Congenital Amaurosis; Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3
Retinitis pigmentosa v0.0 SLC7A14 Bryony Thompson gene: SLC7A14 was added
gene: SLC7A14 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SLC7A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A14 were set to 27028480; 24670872
Phenotypes for gene: SLC7A14 were set to Retinitis pigmentosa 68, 615725 (3)
Retinitis pigmentosa v0.0 SEMA4A Bryony Thompson gene: SEMA4A was added
gene: SEMA4A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282
Retinitis pigmentosa v0.0 SAMD11 Bryony Thompson gene: SAMD11 was added
gene: SAMD11 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD11 were set to 27734943
Phenotypes for gene: SAMD11 were set to Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa v0.0 SAG Bryony Thompson gene: SAG was added
gene: SAG was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi disease-1, 258100; Retinitis pigmentosa 47
Retinitis pigmentosa v0.0 RPGRIP1 Bryony Thompson gene: RPGRIP1 was added
gene: RPGRIP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194
Retinitis pigmentosa v0.0 RPGR Bryony Thompson gene: RPGR was added
gene: RPGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPGR 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: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020; Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Retinitis pigmentosa 3, 300029
Retinitis pigmentosa v0.0 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100
Retinitis pigmentosa v0.0 RP2 Bryony Thompson gene: RP2 was added
gene: RP2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis Pigmentosa, X-linked; Retinitis pigmentosa 2, 312600
Retinitis pigmentosa v0.0 RP1L1 Bryony Thompson gene: RP1L1 was added
gene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RP1L1 were set to 31833436; 31236346; 30025130
Phenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587
Retinitis pigmentosa v0.0 RP1 Bryony Thompson gene: RP1 was added
gene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100
Retinitis pigmentosa v0.0 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RLBP1 were set to Retinitis punctata albescens; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Bothnia retinal dystrophy
Retinitis pigmentosa v0.0 RHO Bryony Thompson gene: RHO was added
gene: RHO was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Retinitis punctata albescens; Congenital Stationary Night Blindness
Retinitis pigmentosa v0.0 RGR Bryony Thompson gene: RGR was added
gene: RGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RGR were set to Retinitis pigmentosa 44, 613769
Retinitis pigmentosa v0.0 REEP6 Bryony Thompson gene: REEP6 was added
gene: REEP6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77
Retinitis pigmentosa v0.0 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa, Recessive
Retinitis pigmentosa v0.0 RD3 Bryony Thompson gene: RD3 was added
gene: RD3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612
Retinitis pigmentosa v0.0 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP3 were set to 19074801; 25766589; 19357286; 9614228
Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66, 615233
Retinitis pigmentosa v0.0 PROM1 Bryony Thompson gene: PROM1 was added
gene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657
Retinitis pigmentosa v0.0 PRCD Bryony Thompson gene: PRCD was added
gene: PRCD was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRCD were set to Retinitis pigmentosa 36, 610599
Retinitis pigmentosa v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 Retinitis pigmentosa 76
Retinitis pigmentosa v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2
Retinitis pigmentosa v0.0 PLA2G5 Bryony Thompson gene: PLA2G5 was added
gene: PLA2G5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G5 were set to Fleck retina, familial benign
Retinitis pigmentosa v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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
Retinitis pigmentosa v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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
Retinitis pigmentosa v0.0 PDE6G Bryony Thompson gene: PDE6G was added
gene: PDE6G was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to Retinitis pigmentosa 57, 613582
Retinitis pigmentosa v0.0 PDE6B Bryony Thompson gene: PDE6B was added
gene: PDE6B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa v0.0 PDE6A Bryony Thompson gene: PDE6A was added
gene: PDE6A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDE6A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6A were set to Retinitis pigmentosa 43, 613810
Retinitis pigmentosa v0.0 C2orf71 Bryony Thompson gene: C2orf71 was added
gene: C2orf71 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to Retinitis pigmentosa 54
Retinitis pigmentosa v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OFD1 were set to 28191358; 22619378; 29843741
Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Retinitis pigmentosa v0.0 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina
Retinitis pigmentosa v0.0 NRL Bryony Thompson gene: NRL was added
gene: NRL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NRL were set to Retinitis pigmentosa 27 (AD); Retinal degeneration, autosomal recessive, clumped pigment type (AR)
Retinitis pigmentosa v0.0 NR2E3 Bryony Thompson gene: NR2E3 was added
gene: NR2E3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)
Retinitis pigmentosa v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977
Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy
Retinitis pigmentosa v0.0 NEK2 Bryony Thompson gene: NEK2 was added
gene: NEK2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: NEK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK2 were set to 24043777
Phenotypes for gene: NEK2 were set to ?Retinitis pigmentosa 67, 615565
Retinitis pigmentosa v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria; Hyper-IgD syndrome
Retinitis pigmentosa v0.0 MFRP Bryony Thompson gene: MFRP was added
gene: MFRP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Retinitis pigmentosa v0.0 MERTK Bryony Thompson gene: MERTK was added
gene: MERTK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862
Retinitis pigmentosa v0.0 MAK Bryony Thompson gene: MAK was added
gene: MAK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAK were set to Retinitis pigmentosa 62, 614181
Retinitis pigmentosa v0.0 LRAT Bryony Thompson gene: LRAT was added
gene: LRAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber Congenital Amaurosis; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile; Retinal dystrophy, early-onset severe, 613341
Retinitis pigmentosa v0.0 LCA5 Bryony Thompson gene: LCA5 was added
gene: LCA5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537
Retinitis pigmentosa v0.0 KIZ Bryony Thompson gene: KIZ was added
gene: KIZ was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIZ were set to Retinitis pigmentosa 69
Retinitis pigmentosa v0.0 KIAA1549 Bryony Thompson gene: KIAA1549 was added
gene: KIAA1549 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1549 were set to Retinitis pigmentosa 86
Retinitis pigmentosa v0.0 IMPG2 Bryony Thompson gene: IMPG2 was added
gene: IMPG2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581; Maculopathy, IMPG2 - related; Retinitis pigmentosa
Retinitis pigmentosa v0.0 IFT172 Bryony Thompson gene: IFT172 was added
gene: IFT172 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71
Retinitis pigmentosa v0.0 IFT140 Bryony Thompson gene: IFT140 was added
gene: IFT140 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80
Retinitis pigmentosa v0.0 IDH3B Bryony Thompson gene: IDH3B was added
gene: IDH3B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572
Retinitis pigmentosa v0.0 HGSNAT Bryony Thompson gene: HGSNAT was added
gene: HGSNAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73
Retinitis pigmentosa v0.0 GUCY2D Bryony Thompson gene: GUCY2D was added
gene: GUCY2D was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1, 204000; Retinitis pigmentosa
Retinitis pigmentosa v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033
Retinitis pigmentosa v0.0 FAM161A Bryony Thompson gene: FAM161A was added
gene: FAM161A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068
Retinitis pigmentosa v0.0 EYS Bryony Thompson gene: EYS was added
gene: EYS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EYS were set to Retinitis pigmentosa 25, 602772
Retinitis pigmentosa v0.0 EMC1 Bryony Thompson gene: EMC1 was added
gene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 29271071; 23105016
Phenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation
Retinitis pigmentosa v0.0 DHX38 Bryony Thompson gene: DHX38 was added
gene: DHX38 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were set to Retinitis pigmentosa 84, 618220
Retinitis pigmentosa v0.0 DHDDS Bryony Thompson gene: DHDDS was added
gene: DHDDS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861
Retinitis pigmentosa v0.0 CYP4V2 Bryony Thompson gene: CYP4V2 was added
gene: CYP4V2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP4V2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4V2 were set to Retinitis pigmentosa; Bietti crystalline corneoretinal dystrophy, 210370
Retinitis pigmentosa v0.0 CWC27 Bryony Thompson gene: CWC27 was added
gene: CWC27 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinitis pigmentosa v0.0 CRB1 Bryony Thompson gene: CRB1 was added
gene: CRB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Retinitis pigmentosa v0.0 CNGB1 Bryony Thompson gene: CNGB1 was added
gene: CNGB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB1 were set to Retinitis pigmentosa 45, 613767
Retinitis pigmentosa v0.0 CNGA1 Bryony Thompson gene: CNGA1 was added
gene: CNGA1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNGA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CNGA1 were set to Retinitis pigmentosa 49, 613756
Retinitis pigmentosa v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 Retinitis pigmentosa 61, 614180
Retinitis pigmentosa v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Retinitis pigmentosa; Juvenile neuronal ceroid lipofuscinosis
Retinitis pigmentosa v0.0 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCC1 were set to 30157172
Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32
Retinitis pigmentosa v0.0 CHM Bryony Thompson gene: CHM was added
gene: CHM was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHM 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: CHM were set to Retinitis pigmentosa; Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Retinitis pigmentosa v0.0 CERKL Bryony Thompson gene: CERKL was added
gene: CERKL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380
Retinitis pigmentosa v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 209900
Retinitis pigmentosa v0.0 CDHR1 Bryony Thompson gene: CDHR1 was added
gene: CDHR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDHR1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-Rod Dystrophy, Recessive; Retinitis pigmentosa 65; Cone-rod dystrophy 15, 613660
Retinitis pigmentosa v0.0 C8orf37 Bryony Thompson gene: C8orf37 was added
gene: C8orf37 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Retinitis pigmentosa 64, 614500
Retinitis pigmentosa v0.0 BEST1 Bryony Thompson gene: BEST1 was added
gene: BEST1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BEST1 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Maculopathy, bull's-eye; Best Vitelliform Macular Dystrophy; Best macular dystrophy, 153700; Vitreoretinochoroidopathy, 193220; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Bestrophinopathy, 611809; Vitelliform macular dystrophy, adult-onset, 608161
Retinitis pigmentosa v0.0 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
Retinitis pigmentosa v0.0 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Retinitis pigmentosa
Retinitis pigmentosa v0.0 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 209900
Retinitis pigmentosa v0.0 ARL2BP Bryony Thompson gene: ARL2BP was added
gene: ARL2BP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus, 615434
Retinitis pigmentosa v0.0 ARHGEF18 Bryony Thompson gene: ARHGEF18 was added
gene: ARHGEF18 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARHGEF18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARHGEF18 were set to Retinitis pigmentosa 78 617433
Retinitis pigmentosa v0.0 AIPL1 Bryony Thompson gene: AIPL1 was added
gene: AIPL1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy
Retinitis pigmentosa v0.0 AHR Bryony Thompson gene: AHR was added
gene: AHR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 29726989
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85
Retinitis pigmentosa v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 17
Retinitis pigmentosa v0.0 AGBL5 Bryony Thompson gene: AGBL5 was added
gene: AGBL5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75 617023
Retinitis pigmentosa v0.0 ADGRA3 Bryony Thompson gene: ADGRA3 was added
gene: ADGRA3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red
Mode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRA3 were set to 23105016
Phenotypes for gene: ADGRA3 were set to retinal dystrophy
Retinitis pigmentosa v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Retinitis pigmentosa v0.0 ABCA4 Bryony Thompson gene: ABCA4 was added
gene: ABCA4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Macular Degeneration (Dominant); Stargardt disease 1, 248200; Macular degeneration, age-related, 2, 153800; Achromatopsia, Cone, and Cone-rod Dystrophy; Retinal dystrophy, early-onset severe, 248200; Stargardt Disease, Recessive; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular Dystrophy/Degeneration/Stargardt Disease; Fundus flavimaculatus, 248200
Retinitis pigmentosa v0.0 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812
Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35
Retinitis pigmentosa v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Retinitis pigmentosa v0.0 Bryony Thompson Added panel Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH
Mendeliome v0.414 INSRR Zornitza Stark Marked gene: INSRR as ready
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.414 INSRR Zornitza Stark Classified gene: INSRR as Red List (low evidence)
Mendeliome v0.414 INSRR Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.413 INSRR Lauren Akesson reviewed gene: INSRR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.413 GRIK5 Zornitza Stark Marked gene: GRIK5 as ready
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.413 GRIK5 Zornitza Stark Classified gene: GRIK5 as Red List (low evidence)
Mendeliome v0.413 GRIK5 Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.412 GRIK5 Crystle Lee reviewed gene: GRIK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.62 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Proteinuria v0.62 MAGI2 Zornitza Stark Gene: magi2 has been classified as Green List (High Evidence).
Proteinuria v0.62 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609
Proteinuria v0.61 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to
Proteinuria v0.60 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.59 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25271328, 25108225; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Marked gene: CD151 as ready
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.8 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.7 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Literature
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Marked gene: CD151 as ready
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Epidermolysis bullosa v0.3 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.2 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Added comment: Three families described in the literature
Sources: Literature
Proteinuria v0.59 CD151 Zornitza Stark Marked gene: CD151 as ready
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.59 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.58 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Classified gene: FAN1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Mendeliome v0.412 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Mendeliome v0.411 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Mendeliome v0.410 MPST Zornitza Stark Marked gene: MPST as ready
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.410 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.409 MPST Belinda Chong reviewed gene: MPST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.409 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 TBC1D8B Zornitza Stark reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.57 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Proteinuria v0.56 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Proteinuria v0.55 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.54 TBC1D8B Belinda Chong reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.408 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.407 TRIM24 Zornitza Stark Marked gene: TRIM24 as ready
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.407 TRIM24 Zornitza Stark Classified gene: TRIM24 as Red List (low evidence)
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.406 TRIM24 Belinda Chong reviewed gene: TRIM24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.406 ARID5B Zornitza Stark Marked gene: ARID5B as ready
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Classified gene: ARID5B as Red List (low evidence)
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.405 ARID5B Belinda Chong reviewed gene: ARID5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.405 MLX Zornitza Stark Marked gene: MLX as ready
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.405 MLX Zornitza Stark Classified gene: MLX as Red List (low evidence)
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.404 MLX Belinda Chong reviewed gene: MLX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.404 REV3L Zornitza Stark Marked gene: REV3L as ready
Mendeliome v0.404 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Mendeliome v0.404 REV3L Zornitza Stark Phenotypes for gene: REV3L were changed from to Moebius syndrome
Mendeliome v0.403 REV3L Zornitza Stark Publications for gene: REV3L were set to
Mendeliome v0.402 REV3L Zornitza Stark Mode of inheritance for gene: REV3L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 REV3L Belinda Chong reviewed gene: REV3L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26068067, 26068067; Phenotypes: Moebius syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.401 SELP Zornitza Stark Marked gene: SELP as ready
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.401 SELP Zornitza Stark Classified gene: SELP as Red List (low evidence)
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.400 SELP Belinda Chong reviewed gene: SELP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.399 FLG2 Zornitza Stark gene: FLG2 was added
gene: FLG2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported.
Sources: Literature
Epidermolysis bullosa v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Ichthyosis and Porokeratosis v0.1 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Ichthyosis and Porokeratosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.1 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.1 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.0 FLG2 Belinda Chong gene: FLG2 was added
gene: FLG2 was added to Ichthyosis_VCGS. Sources: Literature
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG2 were set to 29758285; 28884927; 29505760
Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084
Review for gene: FLG2 was set to GREEN
Added comment: 3 unrelated families reported
Sources: Literature
Mendeliome v0.398 NLRP2 Zornitza Stark Marked gene: NLRP2 as ready
Mendeliome v0.398 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence).
Mendeliome v0.398 NLRP2 Zornitza Stark Phenotypes for gene: NLRP2 were changed from to female infertility; early embryonic arrest
Mendeliome v0.397 NLRP2 Zornitza Stark Publications for gene: NLRP2 were set to
Mendeliome v0.396 NLRP2 Zornitza Stark Mode of inheritance for gene: NLRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 NLRP2 Belinda Chong reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30877238; Phenotypes: female infertility, early embryonic arrest; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.13 SEC63 Chirag Patel changed review comment from: Very few renal cysts seen in patients. If this PLD gene is in the panel, then we should have all the PLD genes, where very occasional renal cysts can be seen.; to: Renal cysts not a key or common feature seen in these patients. If this PLD gene is in the panel, then we should have all the PLD genes, where very occasional renal cysts can be seen.
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Classified gene: SEC63 as Red List (low evidence)
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Added comment: Comment on list classification: Discussed with Chirag Patel: we should have a consistent approach to all liver cystic disease genes. Renal cysts are not a key feature, therefore Red for this panel.
Renal Macrocystic Disease v0.13 SEC63 Zornitza Stark Gene: sec63 has been classified as Red List (Low Evidence).
Renal Macrocystic Disease v0.12 SEC63 Chirag Patel reviewed gene: SEC63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease 2, OMIM #617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.11 Chirag Patel Panel name changed from Renal ciliopathies and nephronophthisis_KidGen to Renal ciliopathies and nephronophthisis_KidGen_VCGS
Callosome v0.46 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Callosome v0.46 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.46 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.45 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Callosome v0.44 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Callosome v0.43 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Callosome v0.43 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.42 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Mendeliome v0.395 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.395 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Mendeliome v0.394 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Mendeliome v0.393 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.392 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Mendeliome v0.392 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.391 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.11 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Ciliopathies v0.11 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.11 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Ciliopathies v0.10 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Ciliopathies v0.9 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.8 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Ciliopathies v0.8 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.7 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.7 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Ciliopathies v0.7 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Ciliopathies v0.7 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Ciliopathies v0.6 SCLT1 Zornitza Stark Publications for gene: SCLT1 were set to
Ciliopathies v0.5 SCLT1 Zornitza Stark Mode of inheritance for gene: SCLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 SCLT1 Zornitza Stark reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28486600, 30425282, 30237576, 28005958, 24285566; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.9 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Sources: Expert list
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Renal Macrocystic Disease v0.12 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.11 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic liver disease 2, MIM#617004
Review for gene: SEC63 was set to GREEN
Added comment: Renal cysts reported in some individuals; no significant renal impairment.
Sources: Expert list
Mendeliome v0.391 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Mendeliome v0.391 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Mendeliome v0.391 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Mendeliome v0.390 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Mendeliome v0.389 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.2 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.30 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.30 EXOC3L2 Zornitza Stark Classified gene: EXOC3L2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.29 EXOC3L2 Zornitza Stark gene: EXOC3L2 was added
gene: EXOC3L2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448; 28749478; 27894351
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Review for gene: EXOC3L2 was set to GREEN
Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort.
Sources: Literature
Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH
Kidneyome_SuperPanel v0.0 Zornitza Stark Added Panel Kidneyome_SuperPanel_KidGen_VCGS
Set child panels to: Proteinuria_VCGS_KidGen; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS; Renal amyloidosis_KidGen_VCGS; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS; Renal abnormalities of magnesium metabolism_KidGen_VCGS; Renal macrocystic disease_KidGen_VCGS; Atypical Haemolytic Uraemic Syndrome_VCGS; Metabolic renal disease_KidGen; Renal ciliopathies and nephronophthisis_KidGen; Haematuria_VCGS_KidGen; Renal tubulointerstitial disease_KidGen_VCGS; Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS; Renal tubulopathies_KidGen; Nephrolithiasis and Nephrocalcinosis_VCGS; Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS; Bartter Syndrome_VCGS; Renal tubular dysgenesis_VCGS; Branchio-oto-renal syndrome_VCGS; Alport syndrome_VCGS; Dent disease_VCGS; Hyperoxaluria_VCGS
Set panel types to: Superpanel
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.8 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: HUS is a described feature of this metabolic condition.
Sources: Expert list
Haematuria_Alport v0.7 CFHR5 Zornitza Stark reviewed gene: CFHR5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: None
Haematuria_Alport v0.7 CFH Zornitza Stark Marked gene: CFH as ready
Haematuria_Alport v0.7 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Haematuria_Alport v0.7 CFH Zornitza Stark Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814
Haematuria_Alport v0.6 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematuria_Alport v0.5 CFH Zornitza Stark reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.388 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported with nephrotic syndrome.
Sources: Literature
Proteinuria v0.54 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Proteinuria v0.54 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Proteinuria v0.54 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.387 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.387 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.386 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Mendeliome v0.385 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Mendeliome v0.385 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Mendeliome v0.385 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Proteinuria v0.53 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Proteinuria v0.53 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Proteinuria v0.53 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Proteinuria v0.52 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.52 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.51 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Mendeliome v0.384 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.384 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.383 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Proteinuria v0.50 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.50 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.49 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families described.
Sources: Literature
Proteinuria v0.48 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Proteinuria v0.48 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Proteinuria v0.48 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Glomerulosclerosis, focal segmental, 7, MIM#616002
Proteinuria v0.47 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Proteinuria v0.46 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676634; Phenotypes: Glomerulosclerosis, focal segmental, 7, MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Proteinuria v0.45 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.45 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM#613820
Proteinuria v0.44 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.43 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Proteinuria v0.43 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.42 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM#613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.382 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Mendeliome v0.382 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.382 XPO5 Zornitza Stark Phenotypes for gene: XPO5 were changed from to Nephrotic syndrome
Mendeliome v0.381 XPO5 Zornitza Stark Publications for gene: XPO5 were set to
Mendeliome v0.380 XPO5 Zornitza Stark Mode of inheritance for gene: XPO5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.379 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Mendeliome v0.379 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.378 XPO5 Zornitza Stark reviewed gene: XPO5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.42 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.42 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.41 XPO5 Zornitza Stark gene: XPO5 was added
gene: XPO5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: XPO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPO5 were set to 26878725
Phenotypes for gene: XPO5 were set to Nephrotic syndrome
Review for gene: XPO5 was set to AMBER
Added comment: Singe family reported.
Sources: Expert list
Proteinuria v0.40 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.40 NUP93 Zornitza Stark Classified gene: NUP93 as Green List (high evidence)
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.39 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP93 were set to 26878725
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, MIM#616892
Review for gene: NUP93 was set to GREEN
Added comment: 7 individuals from six unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Mendeliome v0.378 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Mendeliome v0.378 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.378 NUP205 Zornitza Stark Phenotypes for gene: NUP205 were changed from to Nephrotic syndrome, type 13, MIM#616893
Mendeliome v0.377 NUP205 Zornitza Stark Publications for gene: NUP205 were set to
Mendeliome v0.376 NUP205 Zornitza Stark Mode of inheritance for gene: NUP205 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.375 NUP205 Zornitza Stark Classified gene: NUP205 as Red List (low evidence)
Mendeliome v0.375 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.374 NUP205 Zornitza Stark reviewed gene: NUP205: Rating: RED; Mode of pathogenicity: None; Publications: 26878725; Phenotypes: Nephrotic syndrome, type 13, MIM#616893; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.38 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Proteinuria v0.38 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Proteinuria v0.38 NUP205 Zornitza Stark gene: NUP205 was added
gene: NUP205 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP205 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP205 were set to 26878725
Phenotypes for gene: NUP205 were set to Nephrotic syndrome, type 13, MIM#616893
Review for gene: NUP205 was set to RED
Added comment: Single family described so far.
Sources: Expert list
Proteinuria v0.37 LMNA Zornitza Stark Marked gene: LMNA as ready
Proteinuria v0.37 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.37 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Familial partial lipodystrophy; FSGS
Proteinuria v0.36 LMNA Zornitza Stark Publications for gene: LMNA were set to
Proteinuria v0.35 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.34 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Proteinuria v0.34 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.33 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: 24080738; Phenotypes: Familial partial lipodystrophy, FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.374 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Mendeliome v0.374 KANK1 Zornitza Stark Added comment: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.
Mendeliome v0.374 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.372 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Phenotypes for gene: KANK4 were set to Nephrotic syndrome
Review for gene: KANK4 was set to AMBER
Added comment: Two individuals from a single family reported; gene belongs to a family implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.33 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.33 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.0 PRRT2 Michelle Torres reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22101681, PMID 22744660, PMID 31124310, PMID 26561923; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuria v0.32 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Review for gene: KANK4 was set to AMBER
Added comment: Single family with two affected individuals reported; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.31 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.31 KANK1 Zornitza Stark Added comment: Comment on list classification: Note previously discussed with Chirag Patel, Amber for now.
Proteinuria v0.31 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.30 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.30 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Classified gene: KANK2 as Green List (high evidence)
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.28 KANK2 Zornitza Stark gene: KANK2 was added
gene: KANK2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 25961457
Phenotypes for gene: KANK2 were set to Nephrotic syndrome, type 16, MIM#617783
Review for gene: KANK2 was set to GREEN
Added comment: Three unrelated families reported, animal model.
Sources: Expert list
Proteinuria v0.27 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Proteinuria v0.27 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.27 KANK1 Zornitza Stark gene: KANK1 was added
gene: KANK1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK1 were set to 25961457
Phenotypes for gene: KANK1 were set to Nephrotic syndrome
Review for gene: KANK1 was set to RED
Added comment: Single family reported in the literature so far; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.26 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Proteinuria v0.26 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.26 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.24 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Proteinuria v0.23 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.21 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: 10873890; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.21 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.21 COQ8B Zornitza Stark Classified gene: COQ8B as Green List (high evidence)
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.20 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to 24270420
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM#615573
Review for gene: COQ8B was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.19 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Proteinuria v0.19 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.19 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Proteinuria v0.18 COQ8A Zornitza Stark Classified gene: COQ8A as Red List (low evidence)
Proteinuria v0.18 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.17 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 4, MIM#612016; Mode of inheritance: None
Proteinuria v0.17 OCRL Zornitza Stark Marked gene: OCRL as ready
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.17 OCRL Zornitza Stark Classified gene: OCRL as Green List (high evidence)
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.16 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000
Review for gene: OCRL was set to GREEN
Added comment: Low molecular weight proteinuria is a feature of these conditions.
Sources: Expert list
Proteinuria v0.15 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.15 CLCN5 Zornitza Stark Classified gene: CLCN5 as Green List (high evidence)
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.14 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CLCN5 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: CLCN5 were set to Dent disease, MIM#300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Review for gene: CLCN5 was set to GREEN
Added comment: Low molecular weight proteinuria is part of the phenotype.
Sources: Expert list
Proteinuria v0.13 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.13 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.12 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Proteinuria v0.11 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Proteinuria v0.10 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.10 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.10 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.9 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.9 APOE Zornitza Stark Marked gene: APOE as ready
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.9 APOE Zornitza Stark Classified gene: APOE as Green List (high evidence)
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.8 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 18077821; 28966924; 24348079
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Review for gene: APOE was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.7 AMN Zornitza Stark Marked gene: AMN as ready
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.7 AMN Zornitza Stark Classified gene: AMN as Green List (high evidence)
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.6 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 15024727
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#261100
Review for gene: AMN was set to GREEN
Added comment: Proteinuria is a key feature of this condition.
Sources: Expert list
Proteinuria v0.5 Zornitza Stark Panel name changed from Proteinuria_VCGS to Proteinuria_VCGS_KidGen
Proteinuria v0.4 Zornitza Stark Panel name changed from Nephrotic Syndrome_VCGS to Proteinuria_VCGS
Ataxia v0.0 ZNF592 Bryony Thompson gene: ZNF592 was added
gene: ZNF592 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF592 were set to 20531441; 26123727
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5; Galloway-Mowat Syndrome 1, 251300
Ataxia v0.0 ZNF423 Bryony Thompson gene: ZNF423 was added
gene: ZNF423 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF423 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Nephronophthisis 14
Ataxia v0.0 WWOX Bryony Thompson gene: WWOX was added
gene: WWOX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211; Autosomal recessive spinocerebellar ataxia 12, 614322
Ataxia v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300
Ataxia v0.0 WDR81 Bryony Thompson gene: WDR81 was added
gene: WDR81 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Congenital hydrocephalus 3 with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
Ataxia v0.0 WDR73 Bryony Thompson gene: WDR73 was added
gene: WDR73 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway-Mowat Syndrome 1, 251300
Ataxia v0.0 VLDLR Bryony Thompson gene: VLDLR was added
gene: VLDLR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Ataxia v0.0 UCHL1 Bryony Thompson gene: UCHL1 was added
gene: UCHL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491
Ataxia v0.0 UBR4 Bryony Thompson gene: UBR4 was added
gene: UBR4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to ?Episodic ataxia; Episodic ataxia type 8, 616055
Ataxia v0.0 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 26872069; 29902590
Phenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132
Ataxia v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7, 271245; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Spinocerebellar Ataxia, Recessive
Ataxia v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia v0.0 TUBB2A Bryony Thompson gene: TUBB2A was added
gene: TUBB2A was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 29547997
Phenotypes for gene: TUBB2A were set to ?progressive spastic ataxia syndrome resembling sacsinopathy; Complex cortical dysplasia with other brain malformations 5, 615763
Ataxia v0.0 TUBA1A Bryony Thompson gene: TUBA1A was added
gene: TUBA1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA1A were set to 21403111
Phenotypes for gene: TUBA1A were set to Lissencephaly 3, 611603
Ataxia v0.0 TTC19 Bryony Thompson gene: TTC19 was added
gene: TTC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency nuclear type II, 615157; Mitochondrial complex III deficiency, nuclear type 2, 615157
Ataxia v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
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
Ataxia v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Ataxia - paediatric_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 Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500
Ataxia v0.0 TMEM67 Bryony Thompson gene: TMEM67 was added
gene: TMEM67 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6
Ataxia v0.0 TMEM237 Bryony Thompson gene: TMEM237 was added
gene: TMEM237 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14
Ataxia v0.0 TMEM231 Bryony Thompson gene: TMEM231 was added
gene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20
Ataxia v0.0 TMEM216 Bryony Thompson gene: TMEM216 was added
gene: TMEM216 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2
Ataxia v0.0 TMEM138 Bryony Thompson gene: TMEM138 was added
gene: TMEM138 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16
Ataxia v0.0 TMEM106B Bryony Thompson gene: TMEM106B was added
gene: TMEM106B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM106B were set to Hypomyelinating leukodystrophy 16, 617964
Ataxia v0.0 TINF2 Bryony Thompson gene: TINF2 was added
gene: TINF2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130
Ataxia v0.0 THG1L Bryony Thompson gene: THG1L was added
gene: THG1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THG1L were set to Cerebellar ataxia with developmental delay
Ataxia v0.0 TDP2 Bryony Thompson gene: TDP2 was added
gene: TDP2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
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
Ataxia v0.0 TCTN3 Bryony Thompson gene: TCTN3 was added
gene: TCTN3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18
Ataxia v0.0 TCTN2 Bryony Thompson gene: TCTN2 was added
gene: TCTN2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Ataxia v0.0 TCTN1 Bryony Thompson gene: TCTN1 was added
gene: TCTN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13
Ataxia v0.0 TBC1D23 Bryony Thompson gene: TBC1D23 was added
gene: TBC1D23 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia type 11, 617695
Ataxia v0.0 SYNGAP1 Bryony Thompson gene: SYNGAP1 was added
gene: SYNGAP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNGAP1 were set to Autosomal dominant mental retardation 5, 612621
Ataxia v0.0 SRD5A3 Bryony Thompson gene: SRD5A3 was added
gene: SRD5A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379; Congenital disorder of glycosylation type Iq, 612379
Ataxia v0.0 SQSTM1 Bryony Thompson gene: SQSTM1 was added
gene: SQSTM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Ataxia v0.0 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Ataxia v0.0 SNX14 Bryony Thompson gene: SNX14 was added
gene: SNX14 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia 20, 616354; Autosomal recessive spinocerebellar ataxia (#616354)
Ataxia v0.0 SLC9A6 Bryony Thompson gene: SLC9A6 was added
gene: SLC9A6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A6 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: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, 300243
Ataxia v0.0 SLC9A1 Bryony Thompson gene: SLC9A1 was added
gene: SLC9A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr Syndrome
Ataxia v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Bwon-Vialetto-Van Laere syndrome 2, 614707
Ataxia v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED
Ataxia v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Hereditary motor and sensory neuropathy type VIB, 616505
Ataxia v0.0 SLC1A3 Bryony Thompson gene: SLC1A3 was added
gene: SLC1A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6; Episodic ataxia type 6, 612656
Ataxia v0.0 SLC17A5 Bryony Thompson gene: SLC17A5 was added
gene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type
Ataxia v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Ataxia v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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, 616719
Ataxia v0.0 SCN8A Bryony Thompson gene: SCN8A was added
gene: SCN8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia v0.0 SCN2A Bryony Thompson gene: SCN2A was added
gene: SCN2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy 11
Ataxia v0.0 SCN1A Bryony Thompson gene: SCN1A was added
gene: SCN1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome
Ataxia v0.0 RUBCN Bryony Thompson gene: RUBCN was added
gene: RUBCN was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to 20826435; 23728897
Phenotypes for gene: RUBCN were set to ?Spinocerebellar ataxia, autosomal recessive 15
Ataxia v0.0 RPGRIP1L Bryony Thompson gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7
Ataxia v0.0 RORA Bryony Thompson gene: RORA was added
gene: RORA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Ataxia v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
Ataxia v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia
Ataxia v0.0 POLR3B Bryony Thompson gene: POLR3B was added
gene: POLR3B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Ataxia v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
Ataxia v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267; Ataxia with oculomotor apraxia 4 (#616267)
Ataxia v0.0 PMPCB Bryony Thompson gene: PMPCB was added
gene: PMPCB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Ataxia v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Ataxia v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Autosomal recessive Parkinson disease 14, 612953; Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B (#610217); Neurodegeneration with brain iron accumulation 2B, 610217
Ataxia v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Ataxia v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Peroxisome biogenesis disorder 9B
Ataxia v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Peroxisome biogenesis disorder 8A, 614876; Peroxisome biogenesis disorder 8B, 614877
Ataxia v0.0 PCDH12 Bryony Thompson gene: PCDH12 was added
gene: PCDH12 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30459466
Phenotypes for gene: PCDH12 were set to cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Ataxia v0.0 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, 106210; Aniridia, Cerebellar Ataxia, And Mental Retardation
Ataxia v0.0 OPHN1 Bryony Thompson gene: OPHN1 was added
gene: OPHN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPHN1 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: OPHN1 were set to X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Ataxia v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501; Costeff syndrome
Ataxia v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500
Ataxia v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OFD1 were set to Joubert syndrome 10
Ataxia v0.0 NPHP1 Bryony Thompson gene: NPHP1 was added
gene: NPHP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4
Ataxia v0.0 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, 607625; Niemann-Pick disease type C2 (#607625)
Ataxia v0.0 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, 257220; Niemann-Pick disease types C1 and D (#257220)
Ataxia v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Ataxia v0.0 NKX2-1 Bryony Thompson gene: NKX2-1 was added
gene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700
Ataxia v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Ataxia - paediatric_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 Progressive myoclonic epilepsy 2B, Lafora, 254780; Epilepsy, progressive myoclonic 2B (Lafora) 254780
Ataxia v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Ataxia v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; Abetalipoproteinemia
Ataxia v0.0 MTPAP Bryony Thompson gene: MTPAP was added
gene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 20970105; 26319014; 25008111
Phenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672
Ataxia v0.0 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs
Ataxia v0.0 MRE11 Bryony Thompson gene: MRE11 was added
gene: MRE11 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder; Ataxia-telangiectasia-like disorder 1, 604391
Ataxia v0.0 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria cblC type, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism
Ataxia v0.0 MKS1 Bryony Thompson gene: MKS1 was added
gene: MKS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Joubert syndrome 28
Ataxia v0.0 MAPK8IP3 Bryony Thompson gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with variable brain anomalies
Ataxia v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4
Ataxia v0.0 LAMA1 Bryony Thompson gene: LAMA1 was added
gene: LAMA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 26932191
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome; Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Ataxia v0.0 KIF7 Bryony Thompson gene: KIF7 was added
gene: KIF7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Koubert syndrome 12; Acrocallosal syndrome, Schinzel type
Ataxia v0.0 KCNQ2 Bryony Thompson gene: KCNQ2 was added
gene: KCNQ2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Early infantile encephalopathy 7, 613720; Myokymia, 121200
Ataxia v0.0 KCNJ10 Bryony Thompson gene: KCNJ10 was added
gene: KCNJ10 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; SESAME syndrome, 612780
Ataxia v0.0 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Early infantile encephalopathy 32, 616366
Ataxia v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome, 160120; Episodic ataxia/myokymia syndrome
Ataxia v0.0 IRF2BPL Bryony Thompson gene: IRF2BPL was added
gene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
Ataxia v0.0 INPP5E Bryony Thompson gene: INPP5E was added
gene: INPP5E was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1
Ataxia v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800
Ataxia v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Ataxia v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2
Ataxia v0.0 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Gluthathione synthetase deficiency
Ataxia v0.0 GRM1 Bryony Thompson gene: GRM1 was added
gene: GRM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Ataxia v0.0 GRID2 Bryony Thompson gene: GRID2 was added
gene: GRID2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia v0.0 GPAA1 Bryony Thompson gene: GPAA1 was added
gene: GPAA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Ataxia v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Ataxia - paediatric_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 6, 614018
Ataxia v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Hypomyelinating leukodystrophy 2, 608804; Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia; Spastic paraplegia 44, 613206
Ataxia v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Spastic paraplegia 46, 614409
Ataxia v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Ataxia - paediatric_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; Neurodegeneration due to cerebral folate transport deficiency
Ataxia v0.0 FBXL4 Bryony Thompson gene: FBXL4 was added
gene: FBXL4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Ataxia v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Ataxia - paediatric_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 Progressive myoclonic epilepsy 2A, Lafora, 254780; Epilepsy, progressive myoclonic 2A (Lafora) 254780
Ataxia v0.0 EBF3 Bryony Thompson gene: EBF3 was added
gene: EBF3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome, 617330
Ataxia v0.0 DNAJC19 Bryony Thompson gene: DNAJC19 was added
gene: DNAJC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria type V, 610198
Ataxia v0.0 DDHD2 Bryony Thompson gene: DDHD2 was added
gene: DDHD2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.; Spastic paraplegia 54
Ataxia v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Ataxia v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Ataxia v0.0 CWF19L1 Bryony Thompson gene: CWF19L1 was added
gene: CWF19L1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127; Autosomal recessive spinocerebellar ataxia type 17, 616127
Ataxia v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Ataxia - paediatric_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 Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Ataxia v0.0 C5orf42 Bryony Thompson gene: C5orf42 was added
gene: C5orf42 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17
Ataxia v0.0 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Mitochondrial complex IV deficiency
Ataxia v0.0 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016
Ataxia v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3
Ataxia v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Ataxia - paediatric_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 neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Ataxia v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Ataxia - paediatric_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
Ataxia v0.0 CEP41 Bryony Thompson gene: CEP41 was added
gene: CEP41 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15
Ataxia v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5
Ataxia v0.0 CC2D2A Bryony Thompson gene: CC2D2A was added
gene: CC2D2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9
Ataxia v0.0 CASK Bryony Thompson gene: CASK was added
gene: CASK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASK 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: CASK were set to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Ataxia v0.0 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia type 76, 616907
Ataxia v0.0 CAMTA1 Bryony Thompson gene: CAMTA1 was added
gene: CAMTA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia, nonprogressive, with mental retardation, 614756; Cerebellar ataxia with mental retardation, 614756
Ataxia v0.0 CA8 Bryony Thompson gene: CA8 was added
gene: CA8 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Ataxia v0.0 ATP8A2 Bryony Thompson gene: ATP8A2 was added
gene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
Ataxia v0.0 ATP2B3 Bryony Thompson gene: ATP2B3 was added
gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B3 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: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Ataxia v0.0 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 26812546
Phenotypes for gene: ATG5 were set to ?Spinocerebellar ataxia, autosomal recessive 25
Ataxia v0.0 ATCAY Bryony Thompson gene: ATCAY was added
gene: ATCAY was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type
Ataxia v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic Leukodystrophy, 250100; Metachromatic leukodystrophy (#250100)
Ataxia v0.0 ARMC9 Bryony Thompson gene: ARMC9 was added
gene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Ataxia v0.0 ARL13B Bryony Thompson gene: ARL13B was added
gene: ARL13B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Ataxia v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Ataxia v0.0 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinate-semialdehyde dehydrogenase deficiency
Ataxia v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3
Ataxia v0.0 ADPRHL2 Bryony Thompson gene: ADPRHL2 was added
gene: ADPRHL2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Ataxia v0.0 ADGRG1 Bryony Thompson gene: ADGRG1 was added
gene: ADGRG1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752
Ataxia v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration
Ataxia v0.0 ABCB7 Bryony Thompson gene: ABCB7 was added
gene: ABCB7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCB7 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: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135
Ataxia v0.0 Bryony Thompson Added panel Ataxia - paediatric_RMH
Haematuria_Alport v0.5 Zornitza Stark Panel name changed from Haematuria_VCGS to Haematuria_VCGS_KidGen
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.4 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, MIM#614483
Haematuria_Alport v0.3 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.2 COL4A2 Zornitza Stark Classified gene: COL4A2 as Red List (low evidence)
Haematuria_Alport v0.2 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.1 COL4A2 Zornitza Stark changed review comment from: No association with nephropathy.; to: No association with nephropathy identified.
Haematuria_Alport v0.1 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.1 Zornitza Stark Panel name changed from Alport syndrome extended_VCGS to Haematuria_VCGS
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.28 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.28 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.27 CEP55 Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.27 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.27 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.26 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209; 28264986
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Review for gene: CEP55 was set to GREEN
Added comment: Two unrelated families and animal model.
Sources: Expert Review
Mendeliome v0.371 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.371 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.370 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Review for gene: KCNT2 was set to GREEN
Added comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Genetic Epilepsy v0.54 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Marked gene: ASNS as ready
Genetic Epilepsy v0.52 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Genetic Epilepsy v0.51 ASNS Zornitza Stark Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Classified gene: ASNS as Green List (high evidence)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Genetic Epilepsy v0.48 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Genetic Epilepsy v0.47 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Intellectual disability syndromic and non-syndromic v0.1431 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1430 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Autism v0.17 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Autism v0.17 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Autism v0.17 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Autism v0.16 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Autism v0.16 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1429 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 ASNS Elizabeth Palmer gene: ASNS was added
gene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Phenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Penetrance for gene: ASNS were set to Complete
Mode of pathogenicity for gene: ASNS was set to Other
Review for gene: ASNS was set to GREEN
Added comment: Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity.
Sources: Literature
Autism v0.15 ZSWIM6 Elizabeth Palmer gene: ZSWIM6 was added
gene: ZSWIM6 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Phenotypes for gene: ZSWIM6 were set to NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA
Penetrance for gene: ZSWIM6 were set to Complete
Mode of pathogenicity for gene: ZSWIM6 was set to Other
Review for gene: ZSWIM6 was set to GREEN
Added comment: In our 2017 paper autistic features were prominent in the 7 published patients with a recurrent de novo variant in ZSWIM6 R913X. The mutant transcript escapes nonsense mediated decay and therefore likely produces a truncated protein. Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., Rio, M., Murray, L., Leffler, M., Dudding-Byth, T., Oufadem, M., Lalani, S. R., and 31 others. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. Am. J. Hum. Genet. 101: 995-1005, 2017. [PubMed: 29198722]
Sources: Literature
Renal Cystic Disease_SuperPanel v0.0 Zornitza Stark Added Panel Renal cystic disease_SuperPanel_KidGen_VCGS
Set child panels to: Renal macrocystic disease_KidGen_VCGS; Renal ciliopathies and nephronophthisis_KidGen
Set panel types to: Superpanel
Renal Macrocystic Disease v0.10 Chirag Patel Panel name changed from Renal cystic disease_KidGen_VCGS to Renal macrocystic disease_KidGen_VCGS
Intellectual disability syndromic and non-syndromic v0.1429 ZSWIM6 Elizabeth Palmer reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID:: 29198722); Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES, NEDMAGA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Genetic Epilepsy v0.46 ATN1 Elizabeth Palmer reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.46 KCNT2 Elizabeth Palmer gene: KCNT2 was added
gene: KCNT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Phenotypes for gene: KCNT2 were set to Developmental and epileptic encephalopathy
Penetrance for gene: KCNT2 were set to Complete
Mode of pathogenicity for gene: KCNT2 was set to Other
Review for gene: KCNT2 was set to GREEN
Added comment: A.


Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Renal Glomerular Disease_SuperPanel v0.1 Zornitza Stark Panel status changed from internal to public
Renal Glomerular Disease_SuperPanel v0.0 Zornitza Stark Added Panel Renal glomerular disease_SuperPanel_VCGS_KidGen
Set child panels to: Nephrotic Syndrome_VCGS; Alport syndrome extended_VCGS
Set panel types to: Superpanel
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.45 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1428 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Mendeliome v0.369 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.369 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.368 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.6 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.5 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Mendeliome v0.367 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.367 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.366 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1426 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Mendeliome v0.365 FST Zornitza Stark gene: FST was added
gene: FST was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to 31215115
Phenotypes for gene: FST were set to Cleft lip and palate
Review for gene: FST was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.364 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.364 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.363 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115
Phenotypes for gene: GDF11 were set to Cleft lip and palate
Review for gene: GDF11 was set to AMBER
Added comment: Cleft lip and palate, and rib and vertebral hypersegmentation in a single family. Mouse model.
Sources: Literature
Macrocephaly_Megalencephaly v0.7 MLC1 Tiong Tan Classified gene: MLC1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.7 MLC1 Tiong Tan Gene: mlc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan Marked gene: MLC1 as ready
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan Gene: mlc1 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.6 MLC1 Tiong Tan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.5 MLC1 Tiong Tan gene: MLC1 was added
gene: MLC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLC1 were set to 11254442; 18757878; 16652334
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
Penetrance for gene: MLC1 were set to Complete
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Marked gene: HERC1 as ready
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Gene: herc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Classified gene: HERC1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.4 HERC1 Tiong Tan Gene: herc1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.3 HERC1 Tiong Tan gene: HERC1 was added
gene: HERC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011
Penetrance for gene: HERC1 were set to Complete
Review for gene: HERC1 was set to GREEN
Added comment: Sources: Literature
Differences of Sex Development v0.4 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Differences of Sex Development v0.4 PBX1 Zornitza Stark Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.4 PBX1 Zornitza Stark Classified gene: PBX1 as Amber List (moderate evidence)
Differences of Sex Development v0.4 PBX1 Zornitza Stark Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.3 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Disorders of Sex Differentiation_VCGS. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBX1 were set to 31302614; 31058389
Phenotypes for gene: PBX1 were set to 46, XY gonadal dysgenesis
Review for gene: PBX1 was set to AMBER
Added comment: Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis.
Sources: Literature
Microcephaly v0.47 DNA2 Zornitza Stark Marked gene: DNA2 as ready
Microcephaly v0.47 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Microcephaly v0.47 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807
Microcephaly v0.46 DNA2 Zornitza Stark Publications for gene: DNA2 were set to
Microcephaly v0.45 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.44 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1425 CACNA1G Chris Richmond reviewed gene: CACNA1G: Rating: ; Mode of pathogenicity: Other; Publications: 29878067, 31836334; Phenotypes: Spinocerebellar ataxia 42 [616795], Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087], Infantile-Onset Syndromic Cerebellar Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Marked gene: SOST as ready
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Gene: sost has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1423 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures; dysmorphic features
Review for gene: HNRNPR was set to GREEN
Added comment: Four unrelated families with heterozygous variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.1 Bryony Thompson Panel status changed from internal to public
Hereditary Haemorrhagic Telangiectasia v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Hereditary Haemorrhagic Telangiectasia v0.0 RASA1 Bryony Thompson gene: RASA1 was added
gene: RASA1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354
Hereditary Haemorrhagic Telangiectasia v0.0 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
Hereditary Haemorrhagic Telangiectasia v0.0 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation-2
Hereditary Haemorrhagic Telangiectasia v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Gastrointestinal telangiectasia (HP:0002604); Palate telangiectasia (HP:0002707); Lip telangiectasia (HP:0000214); Pulmonary arteriovenous malformation (HP:0006548); Nasal mucosa telangiectasia (HP:0000434); Tongue telangiectasia (HP:0000227); Epistaxis (HP:0000421); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574; Spinal arteriovenous malformation (HP:0002390); ); Finger pad telangiectasia (pulp not nail side); Arteriovenous malformation (HP:0100026)
Hereditary Haemorrhagic Telangiectasia v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to telangiectasia; pulmonary arterial hypertension; epistaxis; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; hepatic arteriovenous malformation; Telangiectasia, hereditary hemorrhagic, type 2 600376
Hereditary Haemorrhagic Telangiectasia v0.0 Bryony Thompson Added panel Hereditary Haemorrhagic Telangiectasia_RMH
Mendeliome v0.362 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.362 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.361 PRDM13 Zornitza Stark gene: PRDM13 was added
gene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM13 were set to 30710461
Phenotypes for gene: PRDM13 were set to Retinal dystrophy
Mode of pathogenicity for gene: PRDM13 was set to Other
Review for gene: PRDM13 was set to GREEN
Added comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene.
Sources: Literature
Mendeliome v0.360 MICB Zornitza Stark Marked gene: MICB as ready
Mendeliome v0.360 MICB Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.360 MICB Zornitza Stark Classified gene: MICB as Red List (low evidence)
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.1 Zornitza Stark Panel status changed from internal to public
Paroxysmal Dyskinesia v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNJ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1S was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNMA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN4A was set to Unknown
Paroxysmal Dyskinesia v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SPR was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC6A5 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC2A1 was set to Unknown
Paroxysmal Dyskinesia v0.0 SLC1A3 Zornitza Stark gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SLC1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN8A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN2A was set to Unknown
Paroxysmal Dyskinesia v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: SCN1A was set to Unknown
Paroxysmal Dyskinesia v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PRRT2 was set to Unknown
Paroxysmal Dyskinesia v0.0 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: PNKD was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ3 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNQ2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA2 was set to Unknown
Paroxysmal Dyskinesia v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: KCNA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRB was set to Unknown
Paroxysmal Dyskinesia v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GLRA1 was set to Unknown
Paroxysmal Dyskinesia v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: GNAO1 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNB4 was set to Unknown
Paroxysmal Dyskinesia v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: CACNA1A was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP7B was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A3 was set to Unknown
Paroxysmal Dyskinesia v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ATP1A2 was set to Unknown
Paroxysmal Dyskinesia v0.0 ADCY5 Zornitza Stark gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department
Mode of inheritance for gene: ADCY5 was set to Unknown
Paroxysmal Dyskinesia v0.0 Zornitza Stark Added panel Paroxysmal dyskinesia_VCGS
Autism v0.15 DSCAM Natasha Brown Marked gene: DSCAM as ready
Autism v0.15 DSCAM Natasha Brown Gene: dscam has been classified as Green List (High Evidence).
Autism v0.15 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism
Autism v0.14 DSCAM Natasha Brown Publications for gene: DSCAM were set to
Autism v0.13 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.12 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Marked gene: DSCAM as ready
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Added comment: Comment when marking as ready: Large cohort studies mean that individual phenotype data currently lacking in particular in relation to ID
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism; ID
Intellectual disability syndromic and non-syndromic v0.1421 DSCAM Natasha Brown Publications for gene: DSCAM were set to
Intellectual disability syndromic and non-syndromic v0.1420 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1419 DSCAM Natasha Brown Classified gene: DSCAM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1419 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.359 MICB Sebastian Lunke changed review comment from: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.; to: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.

https://ghr.nlm.nih.gov/gene/MICB#resources
Mendeliome v0.359 MICB Sebastian Lunke reviewed gene: MICB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.1418 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.2 PISD Zornitza Stark Classified gene: PISD as Amber List (moderate evidence)
Skeletal dysplasia v0.2 PISD Zornitza Stark Gene: pisd has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.1 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 31263216; 30858161
Phenotypes for gene: PISD were set to Spondylometaphyseal dysplasia with large epiphyses
Review for gene: PISD was set to AMBER
Added comment: Two unrelated probands from non-consanguineous families identified as having the same homozygous variant; some functional data. Note there was some regions of homozygosity identified, indicative of distant relatedness and therefore founder effect.
Three other families reported with bi-allelic variants in this gene in 2019 and a multi-system disorder including short stature, but skeletal findings not as well characterised as in this paper.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1417 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development
Added comment: Emerging evidence.
Sources: Research
Mendeliome v0.359 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Holoprosencephaly and septo-optic dysplasia v0.2 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.2 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Differences of Sex Development v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1415 ANKRD17 Zornitza Stark gene: ANKRD17 was added
gene: ANKRD17 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features
Review for gene: ANKRD17 was set to AMBER
Added comment: Emerging evidence.
Sources: Research
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Genetic Epilepsy v0.43 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.41 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.359 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Mendeliome v0.359 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.359 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Mendeliome v0.358 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Mendeliome v0.358 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.357 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark changed review comment from: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research; to: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.0 ISCA-37501-Loss Zornitza Stark Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Skeletal dysplasia v0.0 ISCA-37441-Loss Zornitza Stark Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 20140962; 16319823
Phenotypes for Region: ISCA-37441-Loss were set to parietal foramina; mental retardation; intellectual disability; ophthalmologic anomalies; Potocki-Shaffer syndrome; myopia; biparietal foramina; enlarged anterior fontanel; minor craniofacial anomalies; genital abnormalities in males; developmental delay; multiple exostoses; strabismus; 601224
Skeletal dysplasia v0.0 ISCA-37434-Loss Zornitza Stark Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 18245432; 17918734; 22766398
Phenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features
Skeletal dysplasia v0.0 ISCA-37418-Loss Zornitza Stark Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
Skeletal dysplasia v0.0 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Skeletal dysplasia v0.0 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Skeletal dysplasia v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZNF423 was set to
Skeletal dysplasia v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ZIC3 was set to
Skeletal dysplasia v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB16 were set to Skeletal defects, genital hypoplasia, and mental retardation 612447
Skeletal dysplasia v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: XPNPEP3 was set to
Skeletal dysplasia v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome -277700
Skeletal dysplasia v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT3 were set to 14872406
Phenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395
Skeletal dysplasia v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: WHRN was set to
Skeletal dysplasia v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: VHL was set to
Skeletal dysplasia v0.0 VAC14 Zornitza Stark gene: VAC14 was added
gene: VAC14 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 28635952
Phenotypes for gene: VAC14 were set to Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Skeletal dysplasia v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: USP9X was set to
Phenotypes for gene: USP9X were set to New syndrom with skd
Skeletal dysplasia v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH2A was set to
Skeletal dysplasia v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1G was set to
Skeletal dysplasia v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: USH1C was set to
Skeletal dysplasia v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: UMOD was set to
Skeletal dysplasia v0.0 UFSP2 Zornitza Stark gene: UFSP2 was added
gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: UFSP2 was set to
Publications for gene: UFSP2 were set to 28892125; 26428751
Phenotypes for gene: UFSP2 were set to Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974
Skeletal dysplasia v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TULP1 was set to
Skeletal dysplasia v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC2 was set to
Skeletal dysplasia v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TSC1 was set to
Skeletal dysplasia v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TRMT10A was set to
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature and impaired glucose metabolism, 616033
Skeletal dysplasia v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Polydactyly; Bardet-Biedl syndrome 11, 615988
Skeletal dysplasia v0.0 TOPORS Zornitza Stark gene: TOPORS was added
gene: TOPORS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TOPORS was set to
Skeletal dysplasia v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: TNXB was set to
Skeletal dysplasia v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991; Joubert syndrome 6 610688
Skeletal dysplasia v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM237 was set to
Skeletal dysplasia v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TMEM138 was set to
Skeletal dysplasia v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 22453305; 19553636
Phenotypes for gene: THPO were set to Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Mode of pathogenicity for gene: THPO was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGDS were set to 25480037
Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145
Skeletal dysplasia v0.0 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Skeletal dysplasia. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TDP2 was set to
Phenotypes for gene: TDP2 were set to Dentinogenesis imperfecta, Shields type II, 125490
Skeletal dysplasia v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: TCTN1 was set to
Skeletal dysplasia v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPECC1L was set to Other
Publications for gene: SPECC1L were set to 26111080
Phenotypes for gene: SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism like syndrome 145420
Skeletal dysplasia v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SPATA7 was set to
Skeletal dysplasia v0.0 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SOX11 was set to
Phenotypes for gene: SOX11 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCE1 was set to
Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA4 was set to
Phenotypes for gene: SMARCA4 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: SMARCA2 was set to
Phenotypes for gene: SMARCA2 were set to Coffin Siris syndrome
Skeletal dysplasia v0.0 SLCO5A1 Zornitza Stark gene: SLCO5A1 was added
gene: SLCO5A1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS,Expert list
Mode of inheritance for gene: SLCO5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLCO5A1 were set to 20602915
Phenotypes for gene: SLCO5A1 were set to Mesomelia-synostoses syndrome 600383; Mesomelia-synostoses syndrome 600383
Skeletal dysplasia v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHH were set to 25782671
Phenotypes for gene: SHH were set to Preaxial polydactyly type 1 (PPD1)
Skeletal dysplasia v0.0 SEM1 Zornitza Stark gene: SEM1 was added
gene: SEM1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: SEM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEM1 were set to SHFM1
Skeletal dysplasia v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993
Skeletal dysplasia v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1G was set to
Skeletal dysplasia v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1B was set to
Skeletal dysplasia v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: SCNN1A was set to
Skeletal dysplasia v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH9 was set to
Skeletal dysplasia v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RSPH4A was set to
Skeletal dysplasia v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGRIP1 was set to
Skeletal dysplasia v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPGR was set to
Skeletal dysplasia v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RPE65 was set to
Skeletal dysplasia v0.0 RIPPLY2 Zornitza Stark gene: RIPPLY2 was added
gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: RIPPLY2 was set to
Publications for gene: RIPPLY2 were set to 25343988; 26238661
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6 - 616566
Skeletal dysplasia v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RDH12 was set to
Skeletal dysplasia v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: RD3 was set to
Skeletal dysplasia v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: RAB3GAP2 was set to
Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome
Skeletal dysplasia v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTPRQ was set to
Phenotypes for gene: PTPRQ were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Skeletal dysplasia v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: PLOD1 was set to
Skeletal dysplasia v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PLK4 was set to
Phenotypes for gene: PLK4 were set to Microcephalic primordial dwarfism
Skeletal dysplasia v0.0 PLEKHM1 Zornitza Stark gene: PLEKHM1 was added
gene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868
Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107
Skeletal dysplasia v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKHD1 was set to
Skeletal dysplasia v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PKD2 was set to
Skeletal dysplasia v0.0 PIR Zornitza Stark gene: PIR was added
gene: PIR was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PIR was set to Unknown
Publications for gene: PIR were set to 16183656; 19766747
Phenotypes for gene: PIR were set to Osteoporosis
Skeletal dysplasia v0.0 PIN1 Zornitza Stark gene: PIN1 was added
gene: PIN1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PIN1 was set to Unknown
Publications for gene: PIN1 were set to 24569166
Phenotypes for gene: PIN1 were set to No phenotype associated with this gene
Skeletal dysplasia v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to CLOVES 612918
Skeletal dysplasia v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: PHF6 was set to
Phenotypes for gene: PHF6 were set to Coffin-Siris syndrome
Skeletal dysplasia v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: PCDH15 was set to
Skeletal dysplasia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Skeletal dysplasia v0.0 NPPC Zornitza Stark gene: NPPC was added
gene: NPPC was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: NPPC was set to Unknown
Publications for gene: NPPC were set to 11259675
Phenotypes for gene: NPPC were set to Overgrowth syndrome with 2q37 translocations
Skeletal dysplasia v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP4 was set to
Skeletal dysplasia v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7 267010
Skeletal dysplasia v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NPHP1 was set to
Skeletal dysplasia v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NODAL was set to
Skeletal dysplasia v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NME8 was set to
Skeletal dysplasia v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NKX2-5 was set to
Skeletal dysplasia v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIN were set to 23665482; 22933543
Phenotypes for gene: NIN were set to Seckel syndrome 7 614851
Skeletal dysplasia v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: NEK8 was set to
Skeletal dysplasia v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: MYO7A was set to
Skeletal dysplasia v0.0 MTAP Zornitza Stark gene: MTAP was added
gene: MTAP was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Skeletal dysplasia v0.0 MMP14 Zornitza Stark gene: MMP14 was added
gene: MMP14 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP14 were set to 22922033
Phenotypes for gene: MMP14 were set to Winchester syndrome 277950
Skeletal dysplasia v0.0 MCM5 Zornitza Stark gene: MCM5 was added
gene: MCM5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 617564
Skeletal dysplasia v0.0 MAN2C1 Zornitza Stark gene: MAN2C1 was added
gene: MAN2C1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: MAN2C1 was set to Unknown
Publications for gene: MAN2C1 were set to 6220608
Phenotypes for gene: MAN2C1 were set to alpha-Mannosidosis
Skeletal dysplasia v0.0 LTBP2 Zornitza Stark gene: LTBP2 was added
gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: LTBP2 was set to
Publications for gene: LTBP2 were set to 22539340
Phenotypes for gene: LTBP2 were set to Weill-Marchesani
Skeletal dysplasia v0.0 LRP6 Zornitza Stark gene: LRP6 was added
gene: LRP6 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: LRP6 was set to
Skeletal dysplasia v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LRAT was set to
Skeletal dysplasia v0.0 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Skeletal dysplasia v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 30196550; 16385447
Phenotypes for gene: LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813
Skeletal dysplasia v0.0 LEFTY2 Zornitza Stark gene: LEFTY2 was added
gene: LEFTY2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LEFTY2 was set to
Skeletal dysplasia v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: LCA5 was set to
Skeletal dysplasia v0.0 KCNJ13 Zornitza Stark gene: KCNJ13 was added
gene: KCNJ13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: KCNJ13 was set to
Skeletal dysplasia v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IQCB1 was set to
Skeletal dysplasia v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: INVS was set to
Skeletal dysplasia v0.0 IMPDH1 Zornitza Stark gene: IMPDH1 was added
gene: IMPDH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: IMPDH1 was set to
Skeletal dysplasia v0.0 IFT88 Zornitza Stark gene: IFT88 was added
gene: IFT88 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list
Mode of inheritance for gene: IFT88 was set to Unknown
Publications for gene: IFT88 were set to 23034798
Skeletal dysplasia v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: IDH2 was set to Unknown
Publications for gene: IDH2 were set to 22057234; 22057236; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 613657; Ollier disease/ Dyschondroplasia 166000; Maffucci syndrome 614569; Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)
Skeletal dysplasia v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: HYLS1 was set to
Skeletal dysplasia v0.0 HOXD11 Zornitza Stark gene: HOXD11 was added
gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: HOXD11 was set to
Publications for gene: HOXD11 were set to Fleischman 2013 Blood 122:4837 https://protect-au.mimecast.com/s/EaaSC2xMxLhpLoOwh9oxHM?domain=bloodjournal.org (not in PubMed)
Skeletal dysplasia v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Skeletal dysplasia v0.0 HDAC5 Zornitza Stark gene: HDAC5 was added
gene: HDAC5 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: HDAC5 was set to Unknown
Publications for gene: HDAC5 were set to 26723575
Phenotypes for gene: HDAC5 were set to osteoporosis
Skeletal dysplasia v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GUCY2D was set to
Skeletal dysplasia v0.0 GREM1 Zornitza Stark gene: GREM1 was added
gene: GREM1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Publications for gene: GREM1 were set to 22561515; 19229034
Skeletal dysplasia v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GLIS2 was set to
Skeletal dysplasia v0.0 GDF3 Zornitza Stark gene: GDF3 was added
gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GDF3 was set to
Publications for gene: GDF3 were set to 19864492
Phenotypes for gene: GDF3 were set to Klippel-Feil anomaly with laryngeal malformation - 613702
Skeletal dysplasia v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: GDF1 was set to
Skeletal dysplasia v0.0 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: FOXH1 was set to
Skeletal dysplasia v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 27193493
Skeletal dysplasia v0.0 FMN1 Zornitza Stark gene: FMN1 was added
gene: FMN1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red
Mode of inheritance for gene: FMN1 was set to Unknown
Phenotypes for gene: FMN1 were set to Animal models with skeletal dysplastic phenotypes
Skeletal dysplasia v0.0 FGF9 Zornitza Stark gene: FGF9 was added
gene: FGF9 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF9 were set to 19589401
Phenotypes for gene: FGF9 were set to ?Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: FGF8 was set to Unknown
Publications for gene: FGF8 were set to 24569166
Phenotypes for gene: FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
Skeletal dysplasia v0.0 FBXW4 Zornitza Stark gene: FBXW4 was added
gene: FBXW4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBXW4 was set to Unknown
Publications for gene: FBXW4 were set to 19584065; 18067070
Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560
Mode of pathogenicity for gene: FBXW4 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 FBLIM1 Zornitza Stark gene: FBLIM1 was added
gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FBLIM1 was set to
Publications for gene: FBLIM1 were set to 29912021
Phenotypes for gene: FBLIM1 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 ETF1 Zornitza Stark gene: ETF1 was added
gene: ETF1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ETF1 was set to Unknown
Publications for gene: ETF1 were set to 19631775
Skeletal dysplasia v0.0 ESR1 Zornitza Stark gene: ESR1 was added
gene: ESR1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert
Mode of inheritance for gene: ESR1 was set to
Skeletal dysplasia v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: EP300 was set to
Phenotypes for gene: EP300 were set to Rubinstein Taybi syndrome; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM3 was set to Unknown
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937
Skeletal dysplasia v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042
Skeletal dysplasia v0.0 DOLPP1 Zornitza Stark gene: DOLPP1 was added
gene: DOLPP1 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: DOLPP1 was set to Unknown
Phenotypes for gene: DOLPP1 were set to Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)
Skeletal dysplasia v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAL1 was set to
Skeletal dysplasia v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI2 was set to
Skeletal dysplasia v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAI1 was set to
Skeletal dysplasia v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH5 was set to
Skeletal dysplasia v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAH11 was set to
Skeletal dysplasia v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF3 was set to
Skeletal dysplasia v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF2 was set to
Skeletal dysplasia v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF1 was set to
Skeletal dysplasia v0.0 DLX6 Zornitza Stark gene: DLX6 was added
gene: DLX6 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DLX6 was set to Unknown
Publications for gene: DLX6 were set to 28611547
Phenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Split-hand/foot malformation 1 183600
Skeletal dysplasia v0.0 DACT1 Zornitza Stark gene: DACT1 was added
gene: DACT1 was added to Skeletal dysplasia. Sources: Other,Literature
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 22610794; 19701191; 28054444
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Skeletal dysplasia v0.0 CYP26B1 Zornitza Stark gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP26B1 was set to
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Skeletal dysplasia v0.0 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRX was set to
Skeletal dysplasia v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRELD1 was set to
Skeletal dysplasia v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CRB1 was set to
Skeletal dysplasia v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: COLEC10 was set to
Publications for gene: COLEC10 were set to 28301481
Phenotypes for gene: COLEC10 were set to 3MC syndrome 3 -248340
Skeletal dysplasia v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: COL5A1 was set to
Skeletal dysplasia v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COL12A1 was set to
Phenotypes for gene: COL12A1 were set to Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
Skeletal dysplasia v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CLRN1 was set to
Skeletal dysplasia v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CKAP2L was set to
Phenotypes for gene: CKAP2L were set to Syndactyly with microcephaly and MR (Filippi syndrome) 272440
Skeletal dysplasia v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CFTR was set to
Skeletal dysplasia v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP41 was set to
Skeletal dysplasia v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CEP164 was set to
Skeletal dysplasia v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CDH23 was set to
Skeletal dysplasia v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Skeletal dysplasia. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5 613805
Skeletal dysplasia v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CD96 was set to
Phenotypes for gene: CD96 were set to C-syndrome 217750 (opitz trigonocephaly)
Skeletal dysplasia v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC40 was set to
Skeletal dysplasia v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CCDC39 was set to
Skeletal dysplasia v0.0 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 23015189
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Skeletal dysplasia v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C5orf42 was set to
Skeletal dysplasia v0.0 C2orf71 Zornitza Stark gene: C2orf71 was added
gene: C2orf71 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: C2orf71 was set to
Skeletal dysplasia v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Nestor-Guillermo progeria syndrome 614008
Skeletal dysplasia v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome 10 614175
Skeletal dysplasia v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ATXN10 was set to
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ARL13B was set to
Skeletal dysplasia v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ARID1B was set to
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900; Coffin-Siris
Skeletal dysplasia v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ARID1A was set to
Phenotypes for gene: ARID1A were set to Coffin-Siris
Skeletal dysplasia v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: AKT1 was set to Unknown
Phenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920
Skeletal dysplasia v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AIPL1 was set to
Skeletal dysplasia v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AHI1 was set to
Skeletal dysplasia v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Skeletal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: AFF3 was set to Unknown
Phenotypes for gene: AFF3 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADI1 Zornitza Stark gene: ADI1 was added
gene: ADI1 was added to Skeletal dysplasia. Sources:
Mode of inheritance for gene: ADI1 was set to Unknown
Phenotypes for gene: ADI1 were set to No OMIM or G2P phenotype
Skeletal dysplasia v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: ADGRV1 was set to
Skeletal dysplasia v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: ACVR2B was set to Unknown
Phenotypes for gene: ACVR2B were set to Heterotaxy, visceral, 4, autosomal 613751
Skeletal dysplasia v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 22633399; 27620904; 30716475; 27882533; 24378232
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701
Skeletal dysplasia v0.0 PAM16 Zornitza Stark gene: PAM16 was added
gene: PAM16 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Skeletal dysplasia v0.0 MMP9 Zornitza Stark gene: MMP9 was added
gene: MMP9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 28342220; 19615667
Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 613073
Skeletal dysplasia v0.0 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR17HG were set to 26360630; 21892160; 25391829; 19344873
Phenotypes for gene: MIR17HG were set to FS2; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Brachydactyly with short stature and microcephaly; Feingold syndrome 2, 614326
Skeletal dysplasia v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 18980795; 16401745; 2079835
Phenotypes for gene: MANBA were set to Beta-mannosidosis, 248510
Skeletal dysplasia v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 26173930; 26954065; 26638989
Phenotypes for gene: HNRNPK were set to OMIM:616580; Orphanet:453499; Au-Kline syndrome:616580; Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Skeletal dysplasia v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC4 were set to 15521982; 25402011; 19365831; 20691407
Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Del(2)(q37) 600430
Skeletal dysplasia v0.0 GZF1 Zornitza Stark gene: GZF1 was added
gene: GZF1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863
Phenotypes for gene: GZF1 were set to Larsen syndrome
Skeletal dysplasia v0.0 GPX4 Zornitza Stark gene: GPX4 was added
gene: GPX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220
Skeletal dysplasia v0.0 FBLN1 Zornitza Stark gene: FBLN1 was added
gene: FBLN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber
Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN1 were set to 24084572
Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Skeletal dysplasia v0.0 DCC Zornitza Stark gene: DCC was added
gene: DCC was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Skeletal dysplasia v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627; 24886560
Phenotypes for gene: B9D1 were set to Meckel syndrome 9 614209
Skeletal dysplasia v0.0 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Skeletal dysplasia v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal 275210; Mandibuloacral dysplasia with type B lipodystrophy 608612
Skeletal dysplasia v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557; Gabriele-de Vries syndrome 617557
Skeletal dysplasia v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822
Skeletal dysplasia v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 615777; Desbuquois dysplasia 2 615777
Skeletal dysplasia v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541
Skeletal dysplasia v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930
Skeletal dysplasia v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700
Skeletal dysplasia v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 24211389
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300
Skeletal dysplasia v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
Skeletal dysplasia v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Skeletal dysplasia v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Skeletal dysplasia v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Skeletal dysplasia v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Skeletal dysplasia v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 24504730; 22019273
Phenotypes for gene: WDR19 were set to Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Asphyxiating thoracic dystrophy 5, 614376; Cranioectodermal dysplasia 4, 614378; SRTD5
Skeletal dysplasia v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 28289185; 27158779; 25427950
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Skeletal dysplasia v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Skeletal dysplasia. Sources: Expert,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, 277440
Skeletal dysplasia v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400; Saethre-Chotzen syndrome 101400; Robinow-Sorauf syndrome 180750
Skeletal dysplasia v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Polydactyly; Bardet-Biedl syndrome 8, 615985
Skeletal dysplasia v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Skeletal dysplasia v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Skeletal dysplasia v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to Digital arthropathy-brachydactyly, familial 606835; Parastremmatic dwarfism 168400; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Metatropic dysplasia 156530; Spondylometaphyseal dysplasia, Kozlowski type 184252
Skeletal dysplasia v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
Skeletal dysplasia v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA 200600; Achondrogenesis, type IA 200600
Skeletal dysplasia v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Nasu-Hakola disease 221770
Skeletal dysplasia v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Skeletal dysplasia. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda 313400
Skeletal dysplasia v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289
Skeletal dysplasia v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710
Skeletal dysplasia v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset 239000
Skeletal dysplasia v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; Paget disease of bone 2, early-onset 602080; Osteopetrosis, autosomal recessive 7 612301
Skeletal dysplasia v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066
Skeletal dysplasia v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Meckel syndrome 11 615397; Joubert syndrome 20 614970
Skeletal dysplasia v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Meckel syndrome 2 603194; Joubert syndrome 2 608091
Skeletal dysplasia v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Skeletal dysplasia v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMCO1 were set to 24424126
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Skeletal dysplasia v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Skeletal dysplasia v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816
Skeletal dysplasia v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease 131300; Camurati-Engelmann disease 131300
Skeletal dysplasia v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Skeletal dysplasia v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 22883145
Phenotypes for gene: TCTN3 were set to Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815
Skeletal dysplasia v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654
Skeletal dysplasia v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTEX1D2 were set to 25830415; 26044572
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Skeletal dysplasia v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 154500
Skeletal dysplasia v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700
Skeletal dysplasia v0.0 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBXAS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095
Skeletal dysplasia v0.0 TBX6 Zornitza Stark gene: TBX6 was added
gene: TBX6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600; Spondylocostal dysostosis 5 122600
Skeletal dysplasia v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome 142900
Skeletal dysplasia v0.0 TBX4 Zornitza Stark gene: TBX4 was added
gene: TBX4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome 147891; Ischiocoxopodopatellar syndrome 147891
Skeletal dysplasia v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX3 were set to 30654152; 28145909; 28961683
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome 181450
Skeletal dysplasia v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome 260660
Skeletal dysplasia v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460.; Kenny-Caffey syndrome, type 1 244460
Skeletal dysplasia v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Skeletal dysplasia v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 25388407; 26238251
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency 606003
Skeletal dysplasia v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200
Skeletal dysplasia v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII 616507
Skeletal dysplasia v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SP7 were set to 29382611; 2057926
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII 613849
Skeletal dysplasia v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290; Campomelic dysplasia 114290; Acampomelic campomelic dysplasia 114290
Skeletal dysplasia v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Skeletal dysplasia. Sources: NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500
Skeletal dysplasia v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to 23280965
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085
Skeletal dysplasia v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SNRPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SNRPB were set to Cerebrocostomandibular syndrome 117650
Skeletal dysplasia v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194680; 21194678
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Polydactyly; Microphthalmia with limb anomalies 206920
Skeletal dysplasia v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759
Skeletal dysplasia v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMC1A 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: SMC1A were set to Cornelia de Lange syndrome 2 300590
Skeletal dysplasia v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900
Skeletal dysplasia v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210; Myhre syndrome 139210
Skeletal dysplasia v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795
Skeletal dysplasia v0.0 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
Skeletal dysplasia v0.0 SLC39A13 Zornitza Stark gene: SLC39A13 was added
gene: SLC39A13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Skeletal dysplasia v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia 269250; Schneckenbecken dysplasia 269250
Skeletal dysplasia v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 12476046; 11326280
Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265
Skeletal dysplasia v0.0 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530
Skeletal dysplasia v0.0 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC34A1 were set to 12324554; 25050900; 9560283
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
Skeletal dysplasia v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782
Skeletal dysplasia v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED; Multiple Epiphyseal Dysplasia, Recessive
Skeletal dysplasia v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920
Skeletal dysplasia v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363
Skeletal dysplasia v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome 182212
Skeletal dysplasia v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582; Langer mesomelic dysplasia 249700
Skeletal dysplasia v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome 249420
Skeletal dysplasia v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism 118400
Skeletal dysplasia v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Skeletal dysplasia v0.0 SFRP4 Zornitza Stark gene: SFRP4 was added
gene: SFRP4 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305
Phenotypes for gene: SFRP4 were set to PYL; Pyle disease 265900; Metaphyseal dysplasia
Skeletal dysplasia v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400
Skeletal dysplasia v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831
Skeletal dysplasia v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINH1 were set to 20188343; 25510505
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, 613848; OI3; Osteogenesis Imperfecta and Decreased Bone Density; {Preterm premature rupture of the membranes, susceptibility to}, 610504; skeletal dysplasias; Osteogenesis Imperfecta, Recessive
Skeletal dysplasia v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta, type VI, 613982
Skeletal dysplasia v0.0 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA; Osteogenesis Imperfecta, Cole Carpenter syndrome
Skeletal dysplasia v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome 600920
Skeletal dysplasia v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400
Skeletal dysplasia v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to IVIC syndrome 147750; Okihiro (Duane-radial ray) syndrome 607323
Skeletal dysplasia v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Skeletal dysplasia v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600
Skeletal dysplasia v0.0 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Skeletal dysplasia v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Skeletal dysplasia v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310
Skeletal dysplasia v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Skeletal dysplasia v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250
Skeletal dysplasia v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015
Skeletal dysplasia v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600; RAPILINO syndrome 266280
Skeletal dysplasia v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBPJ were set to 28160419; 22883147; 29924900
Phenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814
Skeletal dysplasia v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000
Skeletal dysplasia v0.0 RASGRP2 Zornitza Stark gene: RASGRP2 was added
gene: RASGRP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 18709451; 24958846
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects; Bleeding disorder, platelet-type, 18 615888
Skeletal dysplasia v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB33B were set to 23042644; 28127940; 22652534; 16470731
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 615222
Skeletal dysplasia v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome 201000
Skeletal dysplasia v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB 614438; Cutis laxa, autosomal recessive, type IIB 612940
Skeletal dysplasia v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Other,Expert Review Green
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to 28327570; 24140112; 27804958
Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; Chromosome 8q24.3 deletion syndrome; VRJS; PUF60 syndrome
Skeletal dysplasia v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; Metachondromatosis 156250; LEOPARD syndrome 1 151100
Skeletal dysplasia v0.0 PTHLH Zornitza Stark gene: PTHLH was added
gene: PTHLH was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTHLH were set to Brachydactyly, type E2 613382; Brachydactyly, type E2 613382
Skeletal dysplasia v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Skeletal dysplasia v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050
Skeletal dysplasia v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency 614023
Skeletal dysplasia v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038
Skeletal dysplasia v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Skeletal dysplasia v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1 610489; Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960
Skeletal dysplasia v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440; Osteogenesis imperfecta, type IX 259440
Skeletal dysplasia v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Skeletal dysplasia v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 27380734; 28067412; 21455487
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396
Skeletal dysplasia v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717
Skeletal dysplasia v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3 248390
Skeletal dysplasia v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462
Skeletal dysplasia v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 26374189; 26162852; 26336158
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Skeletal dysplasia v0.0 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis 300910
Skeletal dysplasia v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2 609220
Skeletal dysplasia v0.0 PITX1 Zornitza Stark gene: PITX1 was added
gene: PITX1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PITX1 were set to 23587911; 23022097; 30459804
Phenotypes for gene: PITX1 were set to Liebenberg syndrome 186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Skeletal dysplasia v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome 269880
Skeletal dysplasia v0.0 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Skeletal dysplasia. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440
Skeletal dysplasia v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300
Skeletal dysplasia v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 28327575; 29868109
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Skeletal dysplasia v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency 601815; Neu-Laxova syndrome 1 256520
Skeletal dysplasia v0.0 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PHEX 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: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800
Skeletal dysplasia v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24931394
Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816; Immunodeficiency 23 615816
Skeletal dysplasia v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 28742517; 7719337; 25800479
Phenotypes for gene: PEX7 were set to Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
Skeletal dysplasia v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 18712838
Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5 616716; Peroxisome biogenesis disorder 2A (Zellweger) 214110
Skeletal dysplasia v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613; Acrodysostosis 2, with or without hormone resistance 614613
Skeletal dysplasia v0.0 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410
Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Skeletal dysplasia v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Skeletal dysplasia v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Skeletal dysplasia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX3 were set to 7726174; 26443304; 12949970; 30173992; 8447316; 11683776; 6340503
Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 3, 148820; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500
Skeletal dysplasia v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Skeletal dysplasia v0.0 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 29384951; 30063094
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1 112240; Cole-Carpenter syndrome 1 112240
Mode of pathogenicity for gene: P4HB was set to Other
Skeletal dysplasia v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII 610915
Skeletal dysplasia v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720
Skeletal dysplasia v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3 613803; Meier-Gorlin syndrome 3 613803
Skeletal dysplasia v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2 613800; Meier-Gorlin syndrome 2 613800
Skeletal dysplasia v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1 224690; Meier-Gorlin syndrome 1 224690
Skeletal dysplasia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: OFD1 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: OFD1 were set to Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Joubert syndrome 10 300804
Skeletal dysplasia v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2 612921
Skeletal dysplasia v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NSDHL 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: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Skeletal dysplasia v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Skeletal dysplasia v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923; Acromesomelic dysplasia, Maroteaux type 602875
Skeletal dysplasia v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Skeletal dysplasia v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 27077170; 25963545; 25132448
Phenotypes for gene: NOTCH1 were set to Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Limb, scalp and skull defects; Adams-Oliver syndrome 5, 616028; AOS
Skeletal dysplasia v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Brachydactyly, type B2 611377; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500
Skeletal dysplasia v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115
Skeletal dysplasia v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Skeletal dysplasia v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 29379197; 29440723
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470
Skeletal dysplasia v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFIX were set to Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
Skeletal dysplasia v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal 162210
Skeletal dysplasia v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550
Skeletal dysplasia v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short rib thoracic dysplasia 6 with or without polydactyly - 263520; Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome; SRPS type 2 (Majewski)
Skeletal dysplasia v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 27789416
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Skeletal dysplasia v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 27213289
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Skeletal dysplasia v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Skeletal dysplasia v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Skeletal dysplasia v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550; Craniosynostosis, type 2 604757
Skeletal dysplasia v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180
Skeletal dysplasia v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were set to Currarino syndrome 176450
Skeletal dysplasia v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy 259600
Skeletal dysplasia v0.0 MMP13 Zornitza Stark gene: MMP13 was added
gene: MMP13 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP13 were set to 24648384
Phenotypes for gene: MMP13 were set to Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400; Metaphyseal anadysplasia 1 602111
Skeletal dysplasia v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990
Skeletal dysplasia v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231; Polydactyly; McKusick-Kaufman syndrome, 236700
Skeletal dysplasia v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome 245150; Keutel syndrome 245150
Skeletal dysplasia v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESP2 were set to 15122512; 18485326
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681
Skeletal dysplasia v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2 214300
Skeletal dysplasia v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2 614976
Skeletal dysplasia v0.0 MATN3 Zornitza Stark gene: MATN3 was added
gene: MATN3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MATN3 were set to 16199550; 16287128; 15121775; 30080953; 11479597
Phenotypes for gene: MATN3 were set to MED; Multiple Epiphyseal Dysplasia, Dominant; Disproportionate Short Stature; Spondyloepimetaphyseal dysplasia, 608728; Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; multiple epiphyseal dysplasia
Skeletal dysplasia v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1 - 257920
Skeletal dysplasia v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 27426733
Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137
Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments
Skeletal dysplasia v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Skeletal dysplasia v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAFB were set to 30430035; 30305815; 2387013
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome 166300
Skeletal dysplasia v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LTBP3 were set to 27068007
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809; Geleophysic dysplasia 3 617809
Skeletal dysplasia v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4 601813; Osteoporosis-pseudoglioma syndrome 259770; [Bone mineral density variability 1] 601884; {Osteoporosis} 166710; van Buchem disease, type 2 607636; Osteopetrosis, autosomal dominant 1 607634; Hyperostosis, endosteal 144750; Osteosclerosis 144750
Skeletal dysplasia v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780
Skeletal dysplasia v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Skeletal dysplasia v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Skeletal dysplasia v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200; Nail-patella syndrome 161200
Skeletal dysplasia v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205
Skeletal dysplasia v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMBR1 were set to 11090342; 26749485
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I 174500; Syndactyly, type IV 186200; Acheiropody 200500; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740
Skeletal dysplasia v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Skeletal dysplasia v0.0 LEMD3 Zornitza Stark gene: LEMD3 was added
gene: LEMD3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEMD3 were set to Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700
Skeletal dysplasia v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400
Skeletal dysplasia v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 - 147920
Skeletal dysplasia v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2 614120; Acrocallosal syndrome 200990; Joubert syndrome 12 200990; Al-Gazali-Bakalinova syndrome 607131
Skeletal dysplasia v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Skeletal dysplasia v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 28220259; 26643951; 29138412
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia
Skeletal dysplasia v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to SBBYSS syndrome 603736; GTPTS,Ohdo; Genitopatellar syndrome 606170
Skeletal dysplasia v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia 258480
Skeletal dysplasia v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type 614078
Skeletal dysplasia v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852; Interleukin 1 receptor antagonist deficiency 612852
Skeletal dysplasia v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL11RA were set to 21741611
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies 614188
Skeletal dysplasia v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG 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: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300
Skeletal dysplasia v0.0 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Skeletal dysplasia v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly -617895; Short-Rib Polydactyly Syndrome
Skeletal dysplasia v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly 611263
Skeletal dysplasia v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT52 were set to 26880018; 30242358; 27466190; 31042281
Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Skeletal dysplasia v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 24027799; 22791528; 28400947; 26892345; 21378380
Phenotypes for gene: IFT43 were set to Short-rib thoracic dysplasia 18 with polydactyly - 617866; ?Cranioectodermal dysplasia 3 - 614099
Skeletal dysplasia v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10
Skeletal dysplasia v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Skeletal dysplasia v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 218330
Skeletal dysplasia v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V 610967
Skeletal dysplasia v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 28319323; 25620204
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, 182250
Mode of pathogenicity for gene: IFIH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Ih 607014
Skeletal dysplasia v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900
Skeletal dysplasia v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH1 were set to 22057234; 22025298; 22057236; 24049096
Phenotypes for gene: IDH1 were set to Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569
Mode of pathogenicity for gene: IDH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
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 612651
Skeletal dysplasia v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800
Skeletal dysplasia v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HPGD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Digital clubbing, isolated congenital 119900; Cranioosteoarthropathy 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Skeletal dysplasia v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 17236141; 12649808; 9758628
Phenotypes for gene: HOXD13 were set to Brachydactyly, type E 113300; Brachydactyly, type D 113200; Syndactyly, type V 186300; Synpolydactyly 1 186000; Brachydactyly-syndactyly syndrome 610713
Skeletal dysplasia v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Guttmacher syndrome 176305; Hand-foot-uterus syndrome 140000; Hand-foot-genital syndrome 140000
Skeletal dysplasia v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Skeletal dysplasia v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Skeletal dysplasia v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HDAC8 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: HDAC8 were set to Cornelia de Lange syndrome 5 300882; Wilson-Turner syndrome 309585
Skeletal dysplasia v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220
Skeletal dysplasia v0.0 GSC Zornitza Stark gene: GSC was added
gene: GSC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Skeletal dysplasia v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 258315
Skeletal dysplasia v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum 231070
Skeletal dysplasia v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940
Skeletal dysplasia v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605
Skeletal dysplasia v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500
Skeletal dysplasia v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RCDP2; Rhizomelic Chondrodysplasia Punctata; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765
Skeletal dysplasia v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350
Skeletal dysplasia v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to {Hypothalamic hamartomas, somatic} 241800; Polydactyly, postaxial, types A1 and B 174200; Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, preaxial, type IV 174700
Skeletal dysplasia v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type I 230500
Skeletal dysplasia v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Syndactyly, type III 186100
Skeletal dysplasia v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to increased responsiveness to growth hormone 604271; {Hypercholesterolemia, familial, modification of}, 143890; Short stature, 604271; Proportionate Short Stature/Small for Gestational Age; Growth hormone insensitivity; Increased responsiveness to growth hormone; Laron dwarfism, 262500
Skeletal dysplasia v0.0 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 18425797
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898.
Skeletal dysplasia v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type 200700; Multiple synostoses syndrome 2 610017; Du Pan syndrome 228900; Acromesomelic dysplasia, Hunter-Thompson type 201250; Brachydactyly, type C 113100; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; {Osteoarthritis-5} 612400; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial I 211900; Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Skeletal dysplasia v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000
Skeletal dysplasia v0.0 FZD2 Zornitza Stark gene: FZD2 was added
gene: FZD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469; 29383834; 29383830; 29230162; 30455931
Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia type 2 164745; Autosomal dominant omodysplasia 164745
Skeletal dysplasia v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis 230000
Skeletal dysplasia v0.0 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 29100092; 30599297
Phenotypes for gene: FN1 were set to Spondylometaphyseal dysplasia, corner fracture type 184255
Mode of pathogenicity for gene: FN1 was set to Other
Skeletal dysplasia v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Spondylocarpotarsal synostosis syndrome 272460; Larsen syndrome 150250; Boomerang dysplasia 112310; Atelosteogenesis, type III 108721
Skeletal dysplasia v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNA 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: FLNA were set to Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Skeletal dysplasia v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968; Brucks syndrome 1 - 259450; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Osteogenesis Imperfecta, Recessive; Brucks syndrome
Skeletal dysplasia v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340; Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577
Skeletal dysplasia v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type II 187601; Thanatophoric dysplasia, type I 187600; SADDAN 616482; LADD syndrome 149730; Achondroplasia 100800; Hypochondroplasia 146000; Muenke syndrome 602849; CATSHL syndrome 610474
Skeletal dysplasia v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730
Skeletal dysplasia v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440
Skeletal dysplasia v0.0 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Osteomalacia, tumor-induced; Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100
Skeletal dysplasia v0.0 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion 309630; Metacarpal 4-5 fusion 309630
Skeletal dysplasia v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF10 were set to LADD syndrome 149730
Skeletal dysplasia v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 18709451
Phenotypes for gene: FERMT3 were set to (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22.; Leukocyte adhesion deficiency, type III 612840
Skeletal dysplasia v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital 121050
Skeletal dysplasia v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Stiff skin syndrome 184900; Marfan syndrome 154700; Geleophysic dysplasia 2 614185; Weill-Marchesani syndrome 2, dominant 608328; Acromicric dysplasia 102370
Skeletal dysplasia v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM58A 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: FAM58A were set to STAR syndrome 300707; STAR syndrome 300707
Skeletal dysplasia v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM46A were set to 29358272
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII 617952
Skeletal dysplasia v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome 259775
Skeletal dysplasia v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Skeletal dysplasia v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome
Skeletal dysplasia v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
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 617425; Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Skeletal dysplasia v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 133701
Skeletal dysplasia v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370; Exostoses, multiple, type 1 133700
Skeletal dysplasia v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
Skeletal dysplasia v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; ECV1; Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Skeletal dysplasia v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300
Skeletal dysplasia v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to 23354439; 26097063
Phenotypes for gene: ERF were set to Craniosynostosis 4 600775; Chitayat syndrome - 617180
Skeletal dysplasia v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams Oliver syndrome 4
Skeletal dysplasia v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Cole disease 615522; Arterial calcification, generalized, of infancy, 1 208000; Hypophosphatemic rickets, autosomal recessive, 2 613312
Skeletal dysplasia v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome 226980; Wolcott-Rallison syndrome 226980
Skeletal dysplasia v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 16760738; 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Skeletal dysplasia v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to 27868325; 25787343; 28229514; 27193220
Phenotypes for gene: EED were set to Cohen-Gibson syndrome 617561; Cohen-Gibson syndrome 617561
Skeletal dysplasia v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: EBP 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: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960
Skeletal dysplasia v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to SRTD15 #617088; SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Skeletal dysplasia v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 21211617
Phenotypes for gene: DYNC2H1 were set to Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)
Skeletal dysplasia v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Smith-McCort dysplasia 607326; Dyggve-Melchior-Clausen disease 223800
Skeletal dysplasia v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Skeletal dysplasia v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331
Skeletal dysplasia v0.0 DSPP Zornitza Stark gene: DSPP was added
gene: DSPP was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to 27973701; 29512331
Phenotypes for gene: DSPP were set to Dentin dysplasia, type II, 125420 -3; Dentinogenesis imperfecta, Shields type III, 125500; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594
Skeletal dysplasia v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421; 15669674; 10642602
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799
Skeletal dysplasia v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930; 30653653
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093
Skeletal dysplasia v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219; Adams-Oliver syndrome 2 614219
Skeletal dysplasia v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879
Skeletal dysplasia v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Acromesomelic dysplasia, Hunter-Thompson type, 201250; Symphalangism, proximal, 1B, 615298; Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1); Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600; Du Pan syndrome, 228900; Hypophosphatemic rickets, AR, 241520; Osteogenesis Imperfecta and Decreased Bone Density; Chondrodysplasia, Grebe type, 200700; skeletal dysplasias; Brachydactyly, type C, 113100; {Osteoarthritis-5}, 612400; Multiple synostoses syndrome 2, 610017
Skeletal dysplasia v0.0 DLX5 Zornitza Stark gene: DLX5 was added
gene: DLX5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX5 were set to 27085093
Phenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Skeletal dysplasia v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26762616; 26104267
Phenotypes for gene: DLX3 were set to Trichodontoosseous syndrome 190320; Amelogenesis imperfecta, type IV 104510
Skeletal dysplasia v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589
Skeletal dysplasia v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300
Skeletal dysplasia v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 22306653
Phenotypes for gene: DIS3L2 were set to Perlman syndrome 267000
Skeletal dysplasia v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750
Skeletal dysplasia v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Skeletal dysplasia v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis 602398
Skeletal dysplasia v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported
Skeletal dysplasia v0.0 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081
Skeletal dysplasia v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I 264700
Skeletal dysplasia v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 273750
Skeletal dysplasia v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 28328823
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Skeletal dysplasia v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 26205983; 15727652; 24966751
Phenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,; Haim-Munk syndrome 245010
Skeletal dysplasia v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis 256540
Skeletal dysplasia v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360803; 24360808
Phenotypes for gene: CSPP1 were set to ORPHA:475 Joubert syndrome; Joubert syndrome 21 615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome 21 615636; ORPHA:564 Meckel syndrome
Skeletal dysplasia v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Skeletal dysplasia v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849; Rubinstein-Taybi syndrome 180849
Skeletal dysplasia v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CREB3L1 were set to 25007323; 28817112; 29936144.; 30657919
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229
Skeletal dysplasia v0.0 COMP Zornitza Stark gene: COMP was added
gene: COMP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Eligibility statement prior genetic testing,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
Skeletal dysplasia v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 28301481; 8933348; 21258343; 2569826
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2 265050
Skeletal dysplasia v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Expert Review,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A3 were set to MED; Mutiple Epiphyseal Dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy; Stickler syndrome type VI; multiple epiphyseal dysplasia; multiple epiphyseal dysplasia 3, with or without myopathy - 600969
Skeletal dysplasia v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932
Skeletal dysplasia v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135
Skeletal dysplasia v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Osteoarthritis with mild chondrodysplasia 604864; Czech dysplasia 609162; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; SED congenita 183900; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; Stickler sydrome, type I, nonsyndromic ocular 609508; Kniest dysplasia 156550; Platyspondylic skeletal dysplasia, Torrance type 151210; Spondyloperipheral dysplasia 271700; Achondrogenesis, type II or hypochondrogenesis 200610; Legg-Calve-Perthes disease 150600; Avascular necrosis of the femoral head 608805
Skeletal dysplasia v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, type VIIB 130060; Ehlers-Danlos syndrome, cardiac valvular form 225320; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, classic 130000; Caffey disease 114000; Osteogenesis imperfecta, type II 166210
Skeletal dysplasia v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524; Weissenbacher-Zweymuller syndrome 277610; Stickler syndrome, type III 184840
Skeletal dysplasia v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780
Skeletal dysplasia v0.0 COL10A1 Zornitza Stark gene: COL10A1 was added
gene: COL10A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500
Skeletal dysplasia v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 19008299; 16537452
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg 611209
Skeletal dysplasia v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Skeletal dysplasia v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I 310468; Dent disease 300009; Hypophosphatemic rickets 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Skeletal dysplasia v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282
Skeletal dysplasia v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Skeletal dysplasia v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776
Skeletal dysplasia v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10; Joubert syndrome 5 610188; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Skeletal dysplasia v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211
Phenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Skeletal dysplasia v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4 613804
Skeletal dysplasia v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGE syndrome 614732
Skeletal dysplasia v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 22140374; 15805154
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Skeletal dysplasia v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
Skeletal dysplasia v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205
Skeletal dysplasia v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 24706459; 18513680; 23351400
Phenotypes for gene: CC2D2A were set to Meckel syndrome 6 612284
Skeletal dysplasia v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalcemia, autosomal dominant 601198; Hyperparathyroidism, neonatal 239200; Hypocalciuric hypercalcemia, type I 145980
Skeletal dysplasia v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450
Skeletal dysplasia v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Skeletal dysplasia v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948
Skeletal dysplasia v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert list,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271; Spondylometaphyseal dysplasia, axial 602271
Skeletal dysplasia v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Brachydactyly, type A1, D 616849; Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis 608022
Skeletal dysplasia v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP2 were set to 19327734; 29198724; 21357617
Phenotypes for gene: BMP2 were set to {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600
Skeletal dysplasia v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII, 614856
Skeletal dysplasia v0.0 BHLHA9 Zornitza Stark gene: BHLHA9 was added
gene: BHLHA9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Skeletal dysplasia v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Polydactyly; Bardet Biedl syndrome 9, 615986
Skeletal dysplasia v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984; Polydactyly
Skeletal dysplasia v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Polydactyly; Bardet Biedl syndrome 5, 615983
Skeletal dysplasia v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982; Polydactyly
Skeletal dysplasia v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Polydactyly; Bardet-Biedl syndrome 2, 615981
Skeletal dysplasia v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989; Polydactyly
Skeletal dysplasia v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987; Polydactyly
Skeletal dysplasia v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 11567139; 12118255; 12677556; 12567324; 12524598; 23143442
Phenotypes for gene: BBS1 were set to Polydactyly; Bardet-Biedl syndrome 1 209900
Skeletal dysplasia v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Skeletal dysplasia v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23889335; 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Skeletal dysplasia v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Skeletal dysplasia v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Skeletal dysplasia v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150
Skeletal dysplasia v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200; Cutis laxa, autosomal recessive, type IIA 219200
Skeletal dysplasia v0.0 ASXL2 Zornitza Stark gene: ASXL2 was added
gene: ASXL2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL2 were set to 27693232
Phenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190; Shashi-Pena syndrome 617190
Skeletal dysplasia v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039
Skeletal dysplasia v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata; Chondrodysplasia punctata, X-linked recessive, 302950; CDPXL
Skeletal dysplasia v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Skeletal dysplasia v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 19858128; 15314642; 15258860
Phenotypes for gene: ARL6 were set to Polydactyly; Bardet-Biedl syndrome 3 600151
Skeletal dysplasia v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP31 were set to 21565291; 29924900
Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300
Skeletal dysplasia v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Skeletal dysplasia v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Disproportionate Short Stature; Osteogenesis Imperfecta and Decreased Bone Density; Gnatodiaphyseal dysplasia; skeletal dysplasias
Skeletal dysplasia v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG syndrome 148050
Skeletal dysplasia v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000
Skeletal dysplasia v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AMER1 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: AMER1 were set to Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373
Skeletal dysplasia v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 613451
Skeletal dysplasia v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760; Frontonasal dysplasia 1 136760 (frontorhiny)
Skeletal dysplasia v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 20451171; 27324866
Phenotypes for gene: ALX1 were set to Frontonasal dysplasia 3 613456; Frontonasal dysplasia type 3 613456
Skeletal dysplasia v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias
Skeletal dysplasia v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 25966638
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210
Skeletal dysplasia v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Skeletal dysplasia v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143
Skeletal dysplasia v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata, type 3 600121
Skeletal dysplasia v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Skeletal dysplasia v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Skeletal dysplasia v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 31019231; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4
Skeletal dysplasia v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS10 were set to 19836009; 30060141; 15368195
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600
Skeletal dysplasia v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100
Skeletal dysplasia v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944
Skeletal dysplasia v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113
Phenotypes for gene: ACAN were set to Spondyloepiphyseal dysplasia, Kimberley type 608361; Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283
Skeletal dysplasia v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome); Hypertrichotic osteochondrodysplasia 239850
Skeletal dysplasia v0.0 Zornitza Stark Added panel Skeletal dysplasia
Mendeliome v0.357 TTLL10 Zornitza Stark Marked gene: TTLL10 as ready
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.357 TTLL10 Zornitza Stark Classified gene: TTLL10 as Red List (low evidence)
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.356 TTLL10 Zornitza Stark reviewed gene: TTLL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.356 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.356 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from to Intellectual disability
Mendeliome v0.355 ZFHX3 Zornitza Stark Mode of inheritance for gene: ZFHX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.354 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1412 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFHX3 were set to Intellectual disability
Review for gene: ZFHX3 was set to GREEN
Added comment: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research
Mendeliome v0.354 USP7 Zornitza Stark Marked gene: USP7 as ready
Mendeliome v0.354 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Mendeliome v0.354 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Intellectual disability; Autism
Mendeliome v0.353 USP7 Zornitza Stark Publications for gene: USP7 were set to
Mendeliome v0.352 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.351 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679821; Phenotypes: Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Marked gene: USP7 as ready
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Classified gene: USP7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1410 USP7 Natasha Brown gene: USP7 was added
gene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP7 were set to 30679821
Phenotypes for gene: USP7 were set to ID; Autism
Review for gene: USP7 was set to GREEN
Added comment: at least 16 individuals identified and 7 previous cases
Sources: Literature
Mendeliome v0.351 KLHL24 Tiong Tan Marked gene: KLHL24 as ready
Mendeliome v0.351 KLHL24 Tiong Tan Gene: klhl24 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.349 KLHL24 Tiong Tan Publications for gene: KLHL24 were set to
Mendeliome v0.348 KLHL24 Tiong Tan Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.44 SEC31A Tiong Tan Marked gene: SEC31A as ready
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.44 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Microcephaly v0.44 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Marked gene: SEC31A as ready
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1408 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Microcephaly v0.43 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1406 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.347 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.347 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.346 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature