| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v0.127 | ARID1B | Zornitza Stark Marked gene: ARID1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.127 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.127 | ARID1B | Bryony Thompson Classified gene: ARID1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.127 | ARID1B | Bryony Thompson Gene: arid1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.126 | ARID1B |
Bryony Thompson gene: ARID1B was added gene: ARID1B was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 39680505 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1 MONDO:0007617 Review for gene: ARID1B was set to GREEN Added comment: 13 de novo variants were identified in unrelated children (p = 1.80e-17) from a large cerebral ventriculomegaly cohort, including nine LoF variants. Other syndromic features were common. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.125 | LDB1 | Bryony Thompson Marked gene: LDB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.125 | LDB1 | Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.125 | LDB1 | Bryony Thompson Classified gene: LDB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.125 | LDB1 | Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.124 | LDB1 |
Bryony Thompson gene: LDB1 was added gene: LDB1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDB1 were set to 39680505 Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349 Review for gene: LDB1 was set to GREEN Added comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense). Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.123 | DLG5 | Zornitza Stark Marked gene: DLG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.123 | DLG5 | Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.123 | DLG5 | Zornitza Stark Classified gene: DLG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.123 | DLG5 | Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.122 | DLG5 |
Zornitza Stark gene: DLG5 was added gene: DLG5 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703 Review for gene: DLG5 was set to GREEN Added comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. Sources: Expert Review |
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| Hydrocephalus_Ventriculomegaly v0.121 | KIF4A | Elena Savva Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Marked gene: KIF26A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Classified gene: KIF26A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.119 | KIF26A |
Belinda Chong gene: KIF26A was added gene: KIF26A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic Added comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.119 |
Zornitza Stark HPO terms changed from to Hydrocephalus, HP:0000238; Ventriculomegaly, HP:0002119 List of related panels changed from to Hydrocephalus; HP:0000238; Ventriculomegaly; HP:0002119 |
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| Hydrocephalus_Ventriculomegaly v0.118 | CWH43 | Zornitza Stark Marked gene: CWH43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.118 | CWH43 | Zornitza Stark Gene: cwh43 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.118 | CWH43 |
Zornitza Stark gene: CWH43 was added gene: CWH43 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review cnv tags were added to gene: CWH43. Mode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CWH43 were set to 33459505; 34380733 Phenotypes for gene: CWH43 were set to Hydrocephalus MONDO:0001150, CWH43-related Review for gene: CWH43 was set to RED Added comment: Two individuals with recurrent deletion reported. Sources: Expert Review |
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| Hydrocephalus_Ventriculomegaly v0.117 | ATP11A | Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.116 | ATP11A | Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.115 | ATP11A | Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.115 | L1CAM | Zornitza Stark Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.115 | L1CAM | Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.115 | L1CAM | Zornitza Stark Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.114 | L1CAM | Zornitza Stark Publications for gene: L1CAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.113 | L1CAM | Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.112 | L1CAM | Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350, L1 syndrome, MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.112 | C12orf57 | Ain Roesley Marked gene: C12orf57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.112 | C12orf57 | Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.112 | C12orf57 | Ain Roesley Classified gene: C12orf57 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.112 | C12orf57 | Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.111 | C12orf57 |
Ain Roesley gene: C12orf57 was added gene: C12orf57 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 29383837; 31853307 Phenotypes for gene: C12orf57 were set to Temtamy syndrome MIM#218340 Penetrance for gene: C12orf57 were set to Complete Review for gene: C12orf57 was set to GREEN gene: C12orf57 was marked as current diagnostic Added comment: 17/50 individuals reported with ventriculomegaly Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.110 | FLVCR2 | Zornitza Stark Marked gene: FLVCR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.110 | FLVCR2 | Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.110 | FLVCR2 | Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.109 | FLVCR2 | Zornitza Stark Publications for gene: FLVCR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.108 | FLVCR2 | Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.107 | FLVCR2 | Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.107 | MCIDAS | Zornitza Stark Classified gene: MCIDAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.107 | MCIDAS | Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.106 | MCIDAS |
Krithika Murali gene: MCIDAS was added gene: MCIDAS was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCIDAS were set to 32802948; 30237576 Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695 Review for gene: MCIDAS was set to GREEN Added comment: Gene associated with primary ciliary dyskinesia. Hydrocephalus also a reported finding. PMID 32802948 - Retrospective cohort study for 7 consecutive patients from 3 unrelated families diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1 diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.106 | DHCR24 | Zornitza Stark Marked gene: DHCR24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.106 | DHCR24 | Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.106 | DHCR24 | Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.105 | DHCR24 | Zornitza Stark Publications for gene: DHCR24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.104 | DHCR24 | Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.103 | DHCR24 | Zornitza Stark reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.103 | AKT3 | Zornitza Stark Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.103 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.103 | AKT3 | Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.102 | AKT3 | Zornitza Stark Publications for gene: AKT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.101 | AKT3 | Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.100 | AKT3 | Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.100 | DENND5A | Zornitza Stark Marked gene: DENND5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.100 | DENND5A | Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.100 | DENND5A | Zornitza Stark Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.99 | DENND5A | Zornitza Stark Publications for gene: DENND5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.98 | DENND5A | Zornitza Stark Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.97 | DENND5A | Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.97 | ATP11A | Zornitza Stark Marked gene: ATP11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.97 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.97 | ATP11A | Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.97 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.96 | ATP11A |
Elena Savva gene: ATP11A was added gene: ATP11A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP11A were set to PMID: 34403372 Phenotypes for gene: ATP11A were set to Neurological disorder Mode of pathogenicity for gene: ATP11A was set to Other Review for gene: ATP11A was set to AMBER Added comment: PMID: 34403372: - Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. - Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested. - K/I heterozygous mice died perinatally. - Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc. gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.96 | KIF4A | Zornitza Stark Marked gene: KIF4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.96 | KIF4A | Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.96 | KIF4A | Zornitza Stark Classified gene: KIF4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.96 | KIF4A | Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.95 | KIF4A |
Zornitza Stark gene: KIF4A was added gene: KIF4A was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067; 34346154; 30679815 Phenotypes for gene: KIF4A were set to Mental retardation, X-linked 100, MIM# 300923 Review for gene: KIF4A was set to GREEN Added comment: 12 families reported. Severe hydrocephalus present in at least 3. Sources: Expert Review |
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| Hydrocephalus_Ventriculomegaly v0.94 | KIDINS220 | Zornitza Stark Phenotypes for gene: KIDINS220 were changed from cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, MIM# 619501; cerebral ventriculomegaly; limb contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.93 | KIDINS220 | Zornitza Stark edited their review of gene: KIDINS220: Changed phenotypes: Ventriculomegaly and arthrogryposis, MIM# 619501, cerebral ventriculomegaly, limb contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.93 | CEP83 | Zornitza Stark Marked gene: CEP83 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.93 | CEP83 | Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.93 | CEP83 | Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.92 | CEP83 | Zornitza Stark Publications for gene: CEP83 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.91 | CEP83 | Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.90 | CEP83 | Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Hydrocephalus, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.90 | WDR91 | Zornitza Stark Marked gene: WDR91 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.90 | WDR91 | Zornitza Stark Gene: wdr91 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.90 | WDR91 | Zornitza Stark Classified gene: WDR91 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.90 | WDR91 | Zornitza Stark Gene: wdr91 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.89 | WDR91 |
Zornitza Stark gene: WDR91 was added gene: WDR91 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 34028500; 28860274; 32732226 Phenotypes for gene: WDR91 were set to Hydrocephalus; cerebellar hypoplasia; hygroma Review for gene: WDR91 was set to AMBER Added comment: PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents. Mouse models support role in brain development. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 | Zornitza Stark Marked gene: ZNF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 | Zornitza Stark Gene: znf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.88 | ZNF3 |
Zornitza Stark gene: ZNF3 was added gene: ZNF3 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.87 | PLG | Zornitza Stark Marked gene: PLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.87 | PLG | Zornitza Stark Gene: plg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.87 | PLG | Zornitza Stark Phenotypes for gene: PLG were changed from to Plasminogen deficiency, type I, MIM# 217090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.86 | PLG | Zornitza Stark Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.85 | PLG | Zornitza Stark Mode of inheritance for gene: PLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.84 | PLG | Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9242524, 10233898, 21174000, 21174000; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.84 | CRB2 | Zornitza Stark Marked gene: CRB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.84 | CRB2 | Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.84 | CRB2 | Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.83 | CRB2 | Zornitza Stark Publications for gene: CRB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.82 | CRB2 | Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.81 | CRB2 | Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.81 | KIDINS220 | Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.80 | KIDINS220 | Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.80 | KIDINS220 | Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.79 | KIDINS220 | Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.79 | EEF2 | Zornitza Stark Marked gene: EEF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.79 | EEF2 | Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.79 | EEF2 | Zornitza Stark Classified gene: EEF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.79 | EEF2 | Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.78 | EEF2 |
Zornitza Stark gene: EEF2 was added gene: EEF2 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus Review for gene: EEF2 was set to GREEN Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.77 | KIDINS220 | Zornitza Stark Publications for gene: KIDINS220 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.76 | KIDINS220 | Zornitza Stark edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 28934391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.76 | KIDINS220 | Zornitza Stark Marked gene: KIDINS220 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.76 | KIDINS220 | Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.76 | KIDINS220 | Zornitza Stark Classified gene: KIDINS220 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.76 | KIDINS220 | Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.75 | KIDINS220 |
Zornitza Stark gene: KIDINS220 was added gene: KIDINS220 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures Review for gene: KIDINS220 was set to AMBER Added comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. Note mono-allelic variants are associated with ID/spastic paraplegia. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.74 | B3GALNT2 | Zornitza Stark Marked gene: B3GALNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.74 | B3GALNT2 | Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.74 | B3GALNT2 | Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.73 | B3GALNT2 | Zornitza Stark Publications for gene: B3GALNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.72 | B3GALNT2 | Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.71 | B3GALNT2 | Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.71 | FOXJ1 | Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.70 | FOXJ1 | Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Congenital hydrocephalus, Ciliary dyskinesia, primary, 43, MIM#618699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.70 | COG8 | Zornitza Stark Marked gene: COG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.70 | COG8 | Zornitza Stark Gene: cog8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.70 | COG8 | Zornitza Stark Classified gene: COG8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.70 | COG8 | Zornitza Stark Gene: cog8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | COG8 |
Elena Savva gene: COG8 was added gene: COG8 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to PMID: 30690882 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182 Review for gene: COG8 was set to RED Added comment: PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Marked gene: MTOR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Classified gene: MTOR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.68 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTOR were set to 33077954 Phenotypes for gene: MTOR were set to Congenital hydrocephalus; macrocephaly Mode of pathogenicity for gene: MTOR was set to Other Review for gene: MTOR was set to AMBER Added comment: Two de novo missense variants reported in this cohort, along with other variants involved in the MTOR pathway. GOF postulated. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.67 | SMARCC1 | Zornitza Stark Publications for gene: SMARCC1 were set to 33077954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.66 | SMARCC1 |
Zornitza Stark changed review comment from: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Sources: Literature; to: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.66 | SMARCC1 | Zornitza Stark edited their review of gene: SMARCC1: Changed publications: 33077954, 24170322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Marked gene: FOXJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 |
Zornitza Stark changed review comment from: Two de novo LOF reported as part of this large hydrocephalus cohort. Sources: Literature; to: 8 unrelated individuals reported with de novo variants in this gene, primary ciliary dyskinesia and significant obstructive hydrocephalus. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 | Zornitza Stark edited their review of gene: FOXJ1: Changed rating: GREEN; Changed publications: 33077954, 31630787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 |
Zornitza Stark gene: FOXJ1 was added gene: FOXJ1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 33077954 Phenotypes for gene: FOXJ1 were set to Congenital hydrocephalus Review for gene: FOXJ1 was set to AMBER Added comment: Two de novo LOF reported as part of this large hydrocephalus cohort. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.64 | SMARCC1 | Zornitza Stark Marked gene: SMARCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.64 | SMARCC1 | Zornitza Stark Gene: smarcc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.64 | SMARCC1 | Zornitza Stark Classified gene: SMARCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.64 | SMARCC1 | Zornitza Stark Gene: smarcc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.63 | SMARCC1 |
Zornitza Stark gene: SMARCC1 was added gene: SMARCC1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 33077954 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus Review for gene: SMARCC1 was set to GREEN Added comment: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.62 | FGFR1 | Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.61 | FGFR1 | Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Pfeiffer syndrome, MIM# 101600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.60 | FGFR1 | Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | FGFR1 | Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pfeiffer syndrome, MIM# 101600; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | FGFR1 | Tiong Tan Marked gene: FGFR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | FGFR1 | Tiong Tan Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | FGFR1 | Tiong Tan reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Pfeiffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | GPSM2 | Zornitza Stark Marked gene: GPSM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.59 | GPSM2 | Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.58 | GPSM2 | Zornitza Stark Publications for gene: GPSM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.57 | GPSM2 | Zornitza Stark Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.56 | GPSM2 | Zornitza Stark reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.56 | TOGARAM1 | Zornitza Stark Marked gene: TOGARAM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.56 | TOGARAM1 | Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.56 | TOGARAM1 |
Zornitza Stark gene: TOGARAM1 was added gene: TOGARAM1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Review for gene: TOGARAM1 was set to RED Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.55 | ISPD | Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.54 | ISPD | Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.53 | ISPD | Zornitza Stark Marked gene: ISPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.53 | ISPD | Zornitza Stark Gene: ispd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.53 | ISPD | Zornitza Stark Publications for gene: ISPD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.52 | ISPD | Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.51 | ISPD | Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522421, 23217329; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.51 | DLL1 | Zornitza Stark Marked gene: DLL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.51 | DLL1 | Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.51 | DLL1 | Zornitza Stark Classified gene: DLL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.51 | DLL1 | Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.50 | DLL1 |
Zornitza Stark gene: DLL1 was added gene: DLL1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709 Review for gene: DLL1 was set to GREEN Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.49 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.48 | WDR81 | Zornitza Stark Marked gene: WDR81 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.48 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.48 | WDR81 | Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.48 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.47 | WDR81 | Zornitza Stark Phenotypes for gene: WDR81 were changed from Hydrcephalus to Hydrocephalus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.47 | WDR81 | Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.47 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.46 | WDR81 |
Zornitza Stark gene: WDR81 was added gene: WDR81 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 28556411 Phenotypes for gene: WDR81 were set to Hydrcephalus Review for gene: WDR81 was set to AMBER Added comment: WDR81 variants reported in 2 families with severe congenital hydrocephalus (PMID 28556411): Family 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]). Family 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]). Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.45 | TNFRSF11A | Zornitza Stark Marked gene: TNFRSF11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.45 | TNFRSF11A | Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.45 | TNFRSF11A | Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7, MIM# 612301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.44 | TNFRSF11A | Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.43 | TNFRSF11A | Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 7, MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.43 | TCIRG1 | Zornitza Stark Marked gene: TCIRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.43 | TCIRG1 | Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.43 | TCIRG1 | Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.42 | TCIRG1 | Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.41 | TCIRG1 | Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.41 | SEC24D | Zornitza Stark Marked gene: SEC24D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.41 | SEC24D | Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.41 | SEC24D | Zornitza Stark Classified gene: SEC24D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.41 | SEC24D | Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.40 | SEC24D |
Zornitza Stark gene: SEC24D was added gene: SEC24D was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24D were set to 30462379; 27942778; 26467156; 25683121 Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294 Review for gene: SEC24D was set to GREEN Added comment: Five families reported, hydrocephalus is part of the phenotype. Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Marked gene: P4HB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Classified gene: P4HB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.38 | P4HB |
Zornitza Stark gene: P4HB was added gene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240 Review for gene: P4HB was set to GREEN Added comment: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype. Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.37 | MPDZ | Zornitza Stark changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.37 | MPDZ | Zornitza Stark Marked gene: MPDZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.37 | MPDZ | Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.37 | MPDZ | Zornitza Stark Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.36 | MPDZ | Zornitza Stark Publications for gene: MPDZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.35 | MPDZ | Zornitza Stark Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | MPDZ | Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Marked gene: KIF7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Classified gene: KIF7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.33 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 26174511; 21552264 Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome Review for gene: KIF7 was set to AMBER Added comment: Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus. Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.32 | ISLR2 | Zornitza Stark edited their review of gene: ISLR2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.32 | FMR1 | Zornitza Stark Marked gene: FMR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.32 | FMR1 | Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.32 | FMR1 | Zornitza Stark Phenotypes for gene: FMR1 were changed from to Fragile X syndrome, MIM# 300624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.31 | FMR1 | Zornitza Stark Mode of inheritance for gene: FMR1 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.30 | FMR1 | Zornitza Stark Classified gene: FMR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.30 | FMR1 | Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.29 | FMR1 | Zornitza Stark reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM# 300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.29 | ARX | Zornitza Stark Marked gene: ARX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.29 | ARX | Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.29 | ARX | Zornitza Stark Phenotypes for gene: ARX were changed from to Hydranencephaly with abnormal genitalia, MIM# 300215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.28 | ARX | Zornitza Stark Publications for gene: ARX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.27 | ARX | Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.26 | ARX | Zornitza Stark Classified gene: ARX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.26 | ARX | Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.25 | ARX | Zornitza Stark reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 14722918; Phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.25 | HYLS1 | Zornitza Stark Tag founder tag was added to gene: HYLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.25 | HYLS1 | Zornitza Stark Marked gene: HYLS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.25 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.25 | HYLS1 | Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.24 | HYLS1 | Zornitza Stark Publications for gene: HYLS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.23 | HYLS1 | Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.22 | HYLS1 | Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.22 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.21 | HYLS1 | Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.21 | FANCB | Zornitza Stark Marked gene: FANCB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.21 | FANCB | Zornitza Stark Gene: fancb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.21 | FANCB | Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B (MIM#300514) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.20 | FANCB | Zornitza Stark Publications for gene: FANCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.19 | FANCB | Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | FANCB | Crystle Lee reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21910217; Phenotypes: Fanconi anemia, complementation group B (MIM#300514); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Marked gene: B4GAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.17 | B4GAT1 |
Elena Savva gene: B4GAT1 was added gene: B4GAT1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to PMID: 23359570; 23877401 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 Review for gene: B4GAT1 was set to AMBER Added comment: aka B3GNT1 (OMIM) PMID: 23359570 - One family with congenital muscular dystrophy. Index patient had hydrocephalus, seizures, severe hypotonia and retinal dysplasia. Patients were homozygous for TWO missense PMID: 23877401 - One family with congenital onset Walker-warburg syndrome and hydrocephalus, seizure and cognitive impairment. Summary: 2 families with hydrocephalus Sources: Expert list |
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| Hydrocephalus_Ventriculomegaly v0.17 | TRIM71 | Zornitza Stark Marked gene: TRIM71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.17 | TRIM71 | Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.17 | TRIM71 | Zornitza Stark Mode of pathogenicity for gene: TRIM71 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.16 | TRIM71 | Zornitza Stark Classified gene: TRIM71 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.16 | TRIM71 | Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.15 | TRIM71 |
Elena Savva gene: TRIM71 was added gene: TRIM71 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 618667 Mode of pathogenicity for gene: TRIM71 was set to Other Review for gene: TRIM71 was set to GREEN Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.15 | FMR1 | Bryony Thompson Tag STR tag was added to gene: FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.15 | CCDC88C | Zornitza Stark Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.14 | CCDC88C | Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.14 | CCDC88C | Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.13 | CCDC88C | Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.12 | CCDC88C | Zornitza Stark Classified gene: CCDC88C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.12 | CCDC88C | Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.11 | CCDC88C | Zornitza Stark edited their review of gene: CCDC88C: Added comment: Three families reported with this phenotype; note also possible link to SCA, mono-allelic variants, two families.; Changed rating: GREEN; Changed publications: 23042809, 21031079; Changed phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.11 |
Zornitza Stark Panel name changed from Hydrocephalus/Ventriculomegaly_VCGS to Hydrocephalus_Ventriculomegaly Panel types changed to Victorian Clinical Genetics Services |
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| Hydrocephalus_Ventriculomegaly v0.10 | ISLR2 | Zornitza Stark Marked gene: ISLR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.10 | ISLR2 | Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.10 | ISLR2 | Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.10 | ISLR2 | Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.9 | ISLR2 |
Zornitza Stark gene: ISLR2 was added gene: ISLR2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Literature Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISLR2 were set to 30483960 Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus Sources: Literature |
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| Hydrocephalus_Ventriculomegaly v0.8 | MYMK | Zornitza Stark Marked gene: MYMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.8 | MYMK | Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.8 | MYMK | Zornitza Stark Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.8 | MYMK | Zornitza Stark Publications for gene: MYMK were set to 28681861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.7 | MYMK | Zornitza Stark Publications for gene: MYMK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.7 | MYMK | Zornitza Stark Mode of inheritance for gene: MYMK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.6 | MYMK | Zornitza Stark Mode of inheritance for gene: MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.5 | MYMK | Zornitza Stark Classified gene: MYMK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.5 | MYMK | Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.4 | MYMK | Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC3 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | ZIC2 |
Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | ZBTB20 |
Zornitza Stark gene: ZBTB20 was added gene: ZBTB20 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZBTB20 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | WASHC5 |
Zornitza Stark gene: WASHC5 was added gene: WASHC5 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WASHC5 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: USP9X was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TWIST1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | TNFRSF11A |
Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFRSF11A was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | TCIRG1 |
Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCIRG1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | TCF12 |
Zornitza Stark gene: TCF12 was added gene: TCF12 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCF12 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | SUMF1 |
Zornitza Stark gene: SUMF1 was added gene: SUMF1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUMF1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | SUFU |
Zornitza Stark gene: SUFU was added gene: SUFU was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUFU was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | STRADA |
Zornitza Stark gene: STRADA was added gene: STRADA was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STRADA was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | SNX10 |
Zornitza Stark gene: SNX10 was added gene: SNX10 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNX10 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKI was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | TMEM5 |
Zornitza Stark gene: TMEM5 was added gene: TMEM5 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM5 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS6KA3 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | RNF125 |
Zornitza Stark gene: RNF125 was added gene: RNF125 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNF125 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTEN was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PTCH1 |
Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTCH1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PPP2R5D |
Zornitza Stark gene: PPP2R5D was added gene: PPP2R5D was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP2R5D was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMK was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | POMGNT2 |
Zornitza Stark gene: POMGNT2 was added gene: POMGNT2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PLG |
Zornitza Stark gene: PLG was added gene: PLG was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLG was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PIK3R2 |
Zornitza Stark gene: PIK3R2 was added gene: PIK3R2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3CA was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | OSTM1 |
Zornitza Stark gene: OSTM1 was added gene: OSTM1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OSTM1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NSD1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | MYMK |
Zornitza Stark gene: MYMK was added gene: MYMK was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYMK was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | MPDZ |
Zornitza Stark gene: MPDZ was added gene: MPDZ was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPDZ was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN2B1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARGE1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMB1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L1CAM was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | KIAA1109 |
Zornitza Stark gene: KIAA1109 was added gene: KIAA1109 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIAA1109 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | KIAA0586 |
Zornitza Stark gene: KIAA0586 was added gene: KIAA0586 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIAA0586 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ISPD was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDS was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | HYLS1 |
Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYLS1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUSB was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | GPSM2 |
Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPSM2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | GLI3 |
Zornitza Stark gene: GLI3 was added gene: GLI3 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLI3 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GFAP was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FMR1 |
Zornitza Stark gene: FMR1 was added gene: FMR1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FMR1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FLVCR2 |
Zornitza Stark gene: FLVCR2 was added gene: FLVCR2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLVCR2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKTN was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKRP was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR3 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FANCB was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM20C was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | EML1 |
Zornitza Stark gene: EML1 was added gene: EML1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EML1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | DHCR24 |
Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHCR24 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | DENND5A |
Zornitza Stark gene: DENND5A was added gene: DENND5A was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DENND5A was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | DAG1 |
Zornitza Stark gene: DAG1 was added gene: DAG1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DAG1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CRB2 |
Zornitza Stark gene: CRB2 was added gene: CRB2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRB2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | COL4A1 |
Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP83 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CENPF was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CCND2 |
Zornitza Stark gene: CCND2 was added gene: CCND2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCND2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CCDC88C |
Zornitza Stark gene: CCDC88C was added gene: CCDC88C was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC88C was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | CC2D2A |
Zornitza Stark gene: CC2D2A was added gene: CC2D2A was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CC2D2A was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BUB1B was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GLCT was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | B3GALNT2 |
Zornitza Stark gene: B3GALNT2 was added gene: B3GALNT2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GALNT2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | ARX |
Zornitza Stark gene: ARX was added gene: ARX was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARX was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARSB was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | AP1S2 |
Zornitza Stark gene: AP1S2 was added gene: AP1S2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP1S2 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | AKT3 |
Zornitza Stark gene: AKT3 was added gene: AKT3 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKT3 was set to Unknown |
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| Hydrocephalus_Ventriculomegaly v0.0 | Zornitza Stark Added panel Hydrocephalus/Ventriculomegaly_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||