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Pierre Robin Sequence v1.0 EIF4A3_RCPS_complex STR EIF4A3_RCPS_complex: gene migrated from ENSG00000141543 to ENSG00000141543 (gene set migration)
Pierre Robin Sequence v1.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Pierre Robin Sequence v1.0 TSR2 Gene migrated from ENSG00000158526 to ENSG00000158526 (gene set migration)
Pierre Robin Sequence v1.0 KIF15 Gene migrated from ENSG00000163808 to ENSG00000163808 (gene set migration)
Pierre Robin Sequence v1.0 BMPR1B Gene migrated from ENSG00000138696 to ENSG00000138696 (gene set migration)
Pierre Robin Sequence v1.0 ALX3 Gene migrated from ENSG00000156150 to ENSG00000156150 (gene set migration)
Pierre Robin Sequence v1.0 EDN1 Gene migrated from ENSG00000078401 to ENSG00000078401 (gene set migration)
Pierre Robin Sequence v1.0 ALX4 Gene migrated from ENSG00000052850 to ENSG00000052850 (gene set migration)
Pierre Robin Sequence v1.0 EIF4A3 Gene migrated from ENSG00000141543 to ENSG00000141543 (gene set migration)
Pierre Robin Sequence v1.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Pierre Robin Sequence v1.0 LOXL3 Gene migrated from ENSG00000115318 to ENSG00000115318 (gene set migration)
Pierre Robin Sequence v1.0 POLR1B Gene migrated from ENSG00000125630 to ENSG00000125630 (gene set migration)
Pierre Robin Sequence v1.0 RPS28 Gene migrated from ENSG00000233927 to ENSG00000233927 (gene set migration)
Pierre Robin Sequence v1.0 ZSWIM6 Gene migrated from ENSG00000130449 to ENSG00000130449 (gene set migration)
Pierre Robin Sequence v1.0 TXNL4A Gene migrated from ENSG00000141759 to ENSG00000141759 (gene set migration)
Pierre Robin Sequence v1.0 TMCO1 Gene migrated from ENSG00000143183 to ENSG00000143183 (gene set migration)
Pierre Robin Sequence v1.0 TGDS Gene migrated from ENSG00000088451 to ENSG00000088451 (gene set migration)
Pierre Robin Sequence v1.0 TBX22 Gene migrated from ENSG00000122145 to ENSG00000122145 (gene set migration)
Pierre Robin Sequence v1.0 TBX1 Gene migrated from ENSG00000184058 to ENSG00000184058 (gene set migration)
Pierre Robin Sequence v1.0 SPECC1L Gene migrated from ENSG00000100014 to ENSG00000100014 (gene set migration)
Pierre Robin Sequence v1.0 SNRPB Gene migrated from ENSG00000125835 to ENSG00000125835 (gene set migration)
Pierre Robin Sequence v1.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Pierre Robin Sequence v1.0 SF3B4 Gene migrated from ENSG00000143368 to ENSG00000143368 (gene set migration)
Pierre Robin Sequence v1.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Pierre Robin Sequence v1.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Pierre Robin Sequence v1.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Pierre Robin Sequence v1.0 RBM10 Gene migrated from ENSG00000182872 to ENSG00000182872 (gene set migration)
Pierre Robin Sequence v1.0 MED13L Gene migrated from ENSG00000123066 to ENSG00000123066 (gene set migration)
Pierre Robin Sequence v1.0 KCNJ2 Gene migrated from ENSG00000123700 to ENSG00000123700 (gene set migration)
Pierre Robin Sequence v1.0 IRF6 Gene migrated from ENSG00000117595 to ENSG00000117595 (gene set migration)
Pierre Robin Sequence v1.0 HOXA2 Gene migrated from ENSG00000105996 to ENSG00000105996 (gene set migration)
Pierre Robin Sequence v1.0 GNAI3 Gene migrated from ENSG00000065135 to ENSG00000065135 (gene set migration)
Pierre Robin Sequence v1.0 FOXE1 Gene migrated from ENSG00000178919 to ENSG00000178919 (gene set migration)
Pierre Robin Sequence v1.0 FOXC2 Gene migrated from ENSG00000176692 to ENSG00000176692 (gene set migration)
Pierre Robin Sequence v1.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Pierre Robin Sequence v1.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Pierre Robin Sequence v1.0 EFNB1 Gene migrated from ENSG00000090776 to ENSG00000090776 (gene set migration)
Pierre Robin Sequence v1.0 COL9A3 Gene migrated from ENSG00000092758 to ENSG00000092758 (gene set migration)
Pierre Robin Sequence v1.0 COL9A2 Gene migrated from ENSG00000049089 to ENSG00000049089 (gene set migration)
Pierre Robin Sequence v1.0 COL9A1 Gene migrated from ENSG00000112280 to ENSG00000112280 (gene set migration)
Pierre Robin Sequence v1.0 COL11A1 Gene migrated from ENSG00000060718 to ENSG00000060718 (gene set migration)
Pierre Robin Sequence v1.0 BMP4 Gene migrated from ENSG00000125378 to ENSG00000125378 (gene set migration)
Pierre Robin Sequence v1.0 BMP2 Gene migrated from ENSG00000125845 to ENSG00000125845 (gene set migration)
Pierre Robin Sequence v1.0 ALX1 Gene migrated from ENSG00000180318 to ENSG00000180318 (gene set migration)
Pierre Robin Sequence v1.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Pierre Robin Sequence v1.0 COG1 Gene migrated from ENSG00000166685 to ENSG00000166685 (gene set migration)
Pierre Robin Sequence v1.0 EDNRA Gene migrated from ENSG00000151617 to ENSG00000151617 (gene set migration)
Pierre Robin Sequence v1.0 ARCN1 Gene migrated from ENSG00000095139 to ENSG00000095139 (gene set migration)
Pierre Robin Sequence v1.0 MN1 Gene migrated from ENSG00000169184 to ENSG00000169184 (gene set migration)
Pierre Robin Sequence v1.0 PLCB4 Gene migrated from ENSG00000101333 to ENSG00000101333 (gene set migration)
Pierre Robin Sequence v1.0 AMER1 Gene migrated from ENSG00000184675 to ENSG00000184675 (gene set migration)
Pierre Robin Sequence v1.0 IGF2 Gene migrated from ENSG00000167244 to ENSG00000167244 (gene set migration)
Pierre Robin Sequence v1.0 DHODH Gene migrated from ENSG00000102967 to ENSG00000102967 (gene set migration)
Pierre Robin Sequence v1.0 SATB2 Gene migrated from ENSG00000119042 to ENSG00000119042 (gene set migration)
Pierre Robin Sequence v1.0 COL2A1 Gene migrated from ENSG00000139219 to ENSG00000139219 (gene set migration)
Pierre Robin Sequence v1.0 TCOF1 Gene migrated from ENSG00000070814 to ENSG00000070814 (gene set migration)
Pierre Robin Sequence v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.64
Pierre Robin Sequence v0.64 EMX2 Krithika Murali changed review comment from: PMID: 25577462 Lin et al 2014 - novel, heterozygous EMX2 PTC variant (p.E142X) identified in an XX female with didelphic uterus, variant inheritance unknown. Western blot and functional studies indicated formation of a truncated protein with dominant-negative effect. Variant was identified through direct sequencing of EMX2 in a cohort of 517 patients with incomplete Mullerian fusion.

PMID: 33434492 Chen et al 2021 AJHG, identified a novel, heterozygous EMX2 PTC variant (p.Tyr120ter) in a female with type I MKHS (inheritance unknown). Identified through exome-sequencing in an MKHS cohort.

PMID: 34829455 Miclea et al 2021 (Diagnostic) - large panel sequencing performed in a DSD cohort. Novel missense (inheritance unknown) - p.Arg205Gln - identified in a 4 yo XY male with hypospadius, GDD/ID, Pierre-robin sequence, hydrocephalus. Variant located in the DNA binding domain, classified as VUS.

PMID: 41765865 Stamou et al 2026 (Genetics in Medicine) performed trio WES on an idiopathic hypogonadotrophic hypogonadism cohort. 3 de novo CNVs that included 18 genes in the minimal critical region including EMX2 in individuals with DSD and developmental delay. In addition, x2 unrelated individuals with DSD, dev delay, hearing loss had a heterozygous de novo p.Lys199Gln missense variant located in the DNA binding domain. x1 individual identified with crytorchidism and a heterozygous Ser111Ter variant (inheritance unknown).

Based on the current evidence:
- Green for hypogonadotrophic hypogonadism and DSD
- Amber for ID - based on 3 unrelated individuals with dev delay and variants in the DNA binding domain (p.Arg205Gln, p.Lys199Gln)
- Red for Pierre-Robin sequence; to: PMID: 25577462 Lin et al 2014 - novel, heterozygous EMX2 PTC variant (p.E142X) identified in an XX female with didelphic uterus, variant inheritance unknown. Western blot and functional studies indicated formation of a truncated protein with dominant-negative effect. Variant was identified through direct sequencing of EMX2 in a cohort of 517 patients with incomplete Mullerian fusion.

PMID: 33434492 Chen et al 2021 AJHG, identified a novel, heterozygous EMX2 PTC variant (p.Tyr120ter) in a female with type I MKHS (inheritance unknown). Identified through exome-sequencing in an MKHS cohort.

PMID: 34829455 Miclea et al 2021 (Diagnostic) - large panel sequencing performed in a DSD cohort. Novel missense (inheritance unknown) - p.Arg205Gln - identified in a 4 yo XY male with hypospadius, GDD/ID, Pierre-robin sequence, hydrocephalus. Variant located in the DNA binding domain, classified as VUS.

PMID: 41765865 Stamou et al 2026 (Genetics in Medicine) performed trio WES on an idiopathic hypogonadotrophic hypogonadism cohort. 3 de novo CNVs detected in individuals with DSD and developmental delay - 18 genes including EMX2 in the minimal critical region. In addition, x2 unrelated individuals with DSD, dev delay, hearing loss had a heterozygous de novo p.Lys199Gln missense variant located in the DNA binding domain. x1 individual identified with crytorchidism and a heterozygous Ser111Ter variant (inheritance unknown).

Based on the current evidence:
- Green for hypogonadotrophic hypogonadism and DSD
- Amber for ID - based on 3 unrelated individuals with dev delay and variants in the DNA binding domain (p.Arg205Gln, p.Lys199Gln)
- Red for Pierre-Robin sequence
Pierre Robin Sequence v0.64 EMX2 Krithika Murali Phenotypes for gene: EMX2 were changed from Pierre Robin sequence, EMX2-related to Pierre-Robin sequence, EMX2-related
Pierre Robin Sequence v0.64 EMX2 Krithika Murali Phenotypes for gene: EMX2 were changed from Schizencephaly, MIM# 269160 to Pierre Robin sequence, EMX2-related
Pierre Robin Sequence v0.63 EMX2 Krithika Murali Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Pierre Robin Sequence v0.63 EMX2 Krithika Murali Marked gene: EMX2 as ready
Pierre Robin Sequence v0.63 EMX2 Krithika Murali Gene: emx2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.63 EMX2 Krithika Murali Classified gene: EMX2 as Red List (low evidence)
Pierre Robin Sequence v0.63 EMX2 Krithika Murali Gene: emx2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.62 Krithika Murali Copied gene EMX2 from panel Mendeliome
Pierre Robin Sequence v0.62 EMX2 Krithika Murali gene: EMX2 was added
gene: EMX2 was added to Pierre Robin Sequence. Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: EMX2.
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Phenotypes for gene: EMX2 were set to Schizencephaly, MIM# 269160
Pierre Robin Sequence v0.61 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pierre Robin Sequence v0.59 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pierre Robin Sequence v0.59 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.58 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Pierre Robin Sequence v0.58 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.57 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373
Pierre Robin Sequence v0.56 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Pierre Robin Sequence v0.55 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 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)
Pierre Robin Sequence v0.54 Zornitza Stark Added reviews for gene AMER1 from panel Mendeliome
Pierre Robin Sequence v0.53 LOXL3 Zornitza Stark Marked gene: LOXL3 as ready
Pierre Robin Sequence v0.53 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.53 Zornitza Stark Copied gene LOXL3 from panel Fetal anomalies
Pierre Robin Sequence v0.53 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Pierre Robin Sequence. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502; 41052910
Phenotypes for gene: LOXL3 were set to Stickler syndrome, MONDO:0019354, LOXL3-related
Pierre Robin Sequence v0.52 MN1 Zornitza Stark Marked gene: MN1 as ready
Pierre Robin Sequence v0.52 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.52 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Cleft palate; CEBALID syndrome, MIM# 618774
Pierre Robin Sequence v0.51 MN1 Zornitza Stark Publications for gene: MN1 were set to
Pierre Robin Sequence v0.50 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.49 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33351141, 31834374, 33351070, 15870292; Phenotypes: Cleft palate, CEBALID syndrome, MIM# 618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.49 EIF4A3_RCPS_complex Bryony Thompson Marked STR: EIF4A3_RCPS_complex as ready
Pierre Robin Sequence v0.49 EIF4A3_RCPS_complex Bryony Thompson Str: eif4a3_rcps_complex has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.49 EIF4A3_RCPS_complex Bryony Thompson Classified STR: EIF4A3_RCPS_complex as Green List (high evidence)
Pierre Robin Sequence v0.49 EIF4A3_RCPS_complex Bryony Thompson Str: eif4a3_rcps_complex has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.48 EIF4A3_RCPS_complex Bryony Thompson STR: EIF4A3_RCPS_complex was added
STR: EIF4A3_RCPS_complex was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for STR: EIF4A3_RCPS_complex was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: EIF4A3_RCPS_complex were set to 24360810; 29112243
Phenotypes for STR: EIF4A3_RCPS_complex were set to Robin sequence with cleft mandible and limb anomalies MIM#268305; Richieri-Costa-Pereira syndrome
Review for STR: EIF4A3_RCPS_complex was set to GREEN
STR: EIF4A3_RCPS_complex was marked as clinically relevant
STR: EIF4A3_RCPS_complex was marked as current diagnostic
Added comment: NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[X]
Complex repeat motifs containing 18 or 20 nt, divided in three types: (1) a 20-nt motif, TCGGCAGCGGCACAGCGAGG; (2) a 18-nt motif, TCGGCAGCGGCAGCGAGG; and (3) another 20-nt motif that possessed a G instead of an A, TCGGCAGCGGCGCAGCGAGG. The most prevalent (97%) allelic pattern among controls is an initial CACA-20-nt repeated between 2 and 9 times, followed by one CA-18-nt, another CACA-20-nt, and one final CA-18-nt (total repeats = 5 to 12). Affected individuals exhibited the following pattern: an initial CACA-20-nt, followed by 12 to 13 repeats of CGCA-20-nt, one CACA-20-nt, and one final CA-18-nt. At least 5 Brazilian families homozygous or compound heterozygous for 14-16 total repeats or compound het with a missense variant.
Sources: Literature
Pierre Robin Sequence v0.47 PLCB4 Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458
Pierre Robin Sequence v0.47 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458
Pierre Robin Sequence v0.46 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Pierre Robin Sequence v0.46 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.46 ARCN1 Zornitza Stark Classified gene: ARCN1 as Green List (high evidence)
Pierre Robin Sequence v0.46 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.45 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Pierre Robin Sequence. Sources: Expert Review
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARCN1 were set to 35300924
Phenotypes for gene: ARCN1 were set to Short stature-micrognathia syndrome, MIM# 617164
Review for gene: ARCN1 was set to GREEN
Added comment: Significant PRS requiring surgical management is a feature.
Sources: Expert Review
Pierre Robin Sequence v0.44 Zornitza Stark HPO terms changed from to Pierre Robin sequence, HP:0000201
List of related panels changed from to Pierre Robin sequence; HP:0000201
Pierre Robin Sequence v0.43 KIF15 Alison Yeung Marked gene: KIF15 as ready
Pierre Robin Sequence v0.43 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.43 KIF15 Alison Yeung Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981
Pierre Robin Sequence v0.42 KIF15 Alison Yeung Classified gene: KIF15 as Red List (low evidence)
Pierre Robin Sequence v0.42 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.41 KIF15 Krithika Murali gene: KIF15 was added
gene: KIF15 was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF15 were set to 28150392
Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981
Review for gene: KIF15 was set to AMBER
Added comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.

No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1).
Sources: Literature
Pierre Robin Sequence v0.41 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Pierre Robin Sequence v0.40 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Pierre Robin Sequence v0.39 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.38 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.38 PLCB4 Zornitza Stark Marked gene: PLCB4 as ready
Pierre Robin Sequence v0.38 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.38 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from to Auriculocondylar syndrome 2, MIM# 614669
Pierre Robin Sequence v0.37 PLCB4 Zornitza Stark Publications for gene: PLCB4 were set to
Pierre Robin Sequence v0.36 PLCB4 Zornitza Stark Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pierre Robin Sequence v0.35 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091, 23315542, 33131036, 32201334, 28328130, 27007857, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pierre Robin Sequence v0.35 EIF4A3 Zornitza Stark Marked gene: EIF4A3 as ready
Pierre Robin Sequence v0.35 EIF4A3 Zornitza Stark Gene: eif4a3 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.35 EIF4A3 Zornitza Stark Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome
Pierre Robin Sequence v0.34 EIF4A3 Zornitza Stark Publications for gene: EIF4A3 were set to
Pierre Robin Sequence v0.33 EIF4A3 Zornitza Stark Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.32 EIF4A3 Zornitza Stark reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Classified gene: IGF2 as Green List (high evidence)
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.31 IGF2 Elena Savva gene: IGF2 was added
gene: IGF2 was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to PMID: 31544945
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489
Review for gene: IGF2 was set to GREEN
Added comment: PMID: 31544945 - micrognathia (100%, 8 families) and cleft palate (43%, 6/14 families) both reported in patients with SRS
Sources: Literature
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Pierre Robin Sequence v0.30 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Pierre Robin Sequence v0.29 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.28 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Marked gene: EDN1 as ready
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706
Pierre Robin Sequence v0.27 EDN1 Zornitza Stark Publications for gene: EDN1 were set to
Pierre Robin Sequence v0.26 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence)
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.24 EDN1 Zornitza Stark reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542, 23913798, 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Marked gene: DHODH as ready
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750
Pierre Robin Sequence v0.23 DHODH Zornitza Stark Publications for gene: DHODH were set to
Pierre Robin Sequence v0.22 DHODH Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.21 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.21 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia
Pierre Robin Sequence v0.20 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Pierre Robin Sequence v0.19 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.18 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: None
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Marked gene: ALX4 as ready
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Classified gene: ALX4 as Amber List (moderate evidence)
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.17 ALX4 Tiong Tan reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24668755, 22140057, 19692347; Phenotypes: FRONTONASAL DYSPLASIA 2, FND2 with alopecia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence)
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence)
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.16 ALX3 Tiong Tan Marked gene: ALX3 as ready
Pierre Robin Sequence v0.16 ALX3 Tiong Tan Gene: alx3 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.16 ALX3 Tiong Tan reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: frontorhiny; Mode of inheritance: None
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Pierre Robin Sequence v0.15 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Pierre Robin Sequence v0.14 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.12 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.11 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Pierre Robin Sequence v0.10 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.9 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Pierre Robin Sequence v0.9 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.8 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.8 BMPR1B Zornitza Stark Classified gene: BMPR1B as Amber List (moderate evidence)
Pierre Robin Sequence v0.8 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan Marked gene: BMPR1B as ready
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan Gene: bmpr1b has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan gene: BMPR1B was added
gene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 28418932
Phenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis
Penetrance for gene: BMPR1B were set to unknown
Review for gene: BMPR1B was set to AMBER
Added comment: Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant. Both genomic lesions segregated with the PRS phenotype in both families.
Sources: Literature
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Pierre Robin Sequence v0.5 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Pierre Robin Sequence v0.4 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.3 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Pierre Robin Sequence v0.1 Zornitza Stark Panel name changed from Pierre Robin sequence _VCGS to Pierre Robin Sequence
Panel types changed to Victorian Clinical Genetics Services
Pierre Robin Sequence v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZSWIM6 was set to Unknown
Pierre Robin Sequence v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNL4A was set to Unknown
Pierre Robin Sequence v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSR2 was set to Unknown
Pierre Robin Sequence v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMCO1 was set to Unknown
Pierre Robin Sequence v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGDS was set to Unknown
Pierre Robin Sequence v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCOF1 was set to Unknown
Pierre Robin Sequence v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX22 was set to Unknown
Pierre Robin Sequence v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX1 was set to Unknown
Pierre Robin Sequence v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPECC1L was set to Unknown
Pierre Robin Sequence v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNRPB was set to Unknown
Pierre Robin Sequence v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC26A2 was set to Unknown
Pierre Robin Sequence v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SF3B4 was set to Unknown
Pierre Robin Sequence v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to Unknown
Pierre Robin Sequence v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS28 was set to Unknown
Pierre Robin Sequence v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to Unknown
Pierre Robin Sequence v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to Unknown
Pierre Robin Sequence v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL11 was set to Unknown
Pierre Robin Sequence v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM10 was set to Unknown
Pierre Robin Sequence v0.0 PLCB4 Zornitza Stark gene: PLCB4 was added
gene: PLCB4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCB4 was set to Unknown
Pierre Robin Sequence v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGM1 was set to Unknown
Pierre Robin Sequence v0.0 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MN1 was set to Unknown
Pierre Robin Sequence v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED13L was set to Unknown
Pierre Robin Sequence v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ2 was set to Unknown
Pierre Robin Sequence v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IRF6 was set to Unknown
Pierre Robin Sequence v0.0 HOXA2 Zornitza Stark gene: HOXA2 was added
gene: HOXA2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA2 was set to Unknown
Pierre Robin Sequence v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNAI3 was set to Unknown
Pierre Robin Sequence v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE1 was set to Unknown
Pierre Robin Sequence v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to Unknown
Pierre Robin Sequence v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Pierre Robin Sequence v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF4A3 was set to Unknown
Pierre Robin Sequence v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFTUD2 was set to Unknown
Pierre Robin Sequence v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFNB1 was set to Unknown
Pierre Robin Sequence v0.0 EDNRA Zornitza Stark gene: EDNRA was added
gene: EDNRA was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDNRA was set to Unknown
Pierre Robin Sequence v0.0 EDN1 Zornitza Stark gene: EDN1 was added
gene: EDN1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDN1 was set to Unknown
Pierre Robin Sequence v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHODH was set to Unknown
Pierre Robin Sequence v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A3 was set to Unknown
Pierre Robin Sequence v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A2 was set to Unknown
Pierre Robin Sequence v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A1 was set to Unknown
Pierre Robin Sequence v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL2A1 was set to Unknown
Pierre Robin Sequence v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A2 was set to Unknown
Pierre Robin Sequence v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A1 was set to Unknown
Pierre Robin Sequence v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG1 was set to Unknown
Pierre Robin Sequence v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to Unknown
Pierre Robin Sequence v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP2 was set to Unknown
Pierre Robin Sequence v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMER1 was set to Unknown
Pierre Robin Sequence v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALX4 was set to Unknown
Pierre Robin Sequence v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALX3 was set to Unknown
Pierre Robin Sequence v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALX1 was set to Unknown
Pierre Robin Sequence v0.0 Zornitza Stark Added panel Pierre Robin sequence _VCGS