PanelApp (test)
  1. Panels
  2. Holoprosencephaly and septo-optic dysplasia
Description
This panel was developed and is maintained by VCGS.
Panel Activity

19 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Di Milnes (Genetic Health Queensland)

  • Sarah Leigh (Genomics England)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

32 Entities

32 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
32 Entitiess
Green Green List (high evidence)
CDON
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 11, MIM# 614226
  • MONDO:0013642
Tags
Green Green List (high evidence)
DHCR7
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Disease associations
  • Smith-Lemli-Opitz syndrome, 270400
  • alobar holoprosencephaly (HPE)
Tags
Green Green List (high evidence)
DISP1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 10, MIM# 621143
Tags
Green Green List (high evidence)
FGF8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly
  • MONDO:0016296
Tags
Green Green List (high evidence)
FGFR1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hartsfield syndrome, MIM# 615465
Tags
Green Green List (high evidence)
GLI2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 9, MIM# 610829
  • MONDO:0012563
Tags
Green Green List (high evidence)
HESX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Septooptic dysplasia, MIM# 182230
Tags
Green Green List (high evidence)
KMT2D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Kabuki syndrome 1, MIM# 147920
Tags
Green Green List (high evidence)
PPP1R12A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Genitourinary and/or/brain malformation syndrome MIM#618820
Tags
Green Green List (high evidence)
PTCH1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 7, MIM# 610828
Tags
Green Green List (high evidence)
RAD21
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Holoprosencephaly
  • Septo-optic dysplasia
Tags
Green Green List (high evidence)
SHH
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 3 (MIM#142945)
Tags
Green Green List (high evidence)
SIX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 2, MIM# 157170
  • MONDO:0007999
Tags
Green Green List (high evidence)
SMC1A
2 reviews
2 green 		Other
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Tags
Green Green List (high evidence)
STAG2
2 reviews
2 green 		Other
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Holoprosencephaly 13, X-linked, MIM# 301043
Tags
Green Green List (high evidence)
TBC1D32
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • Alsahan-Harris syndrome, MIM#621307
  • Orofaciodigital syndrome type IX, MIM#258865
Tags
Green Green List (high evidence)
TGIF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 4, MIM# 142946
  • MONDO:0007734
Tags
Green Green List (high evidence)
ZIC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly 5, MIM# 609637
  • MONDO:0012322
Tags
Green Green List (high evidence)
ZIC2_HPE5_GCN
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset
Green Green List (high evidence)
ZRSR2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Disease associations
  • Orofaciodigital syndrome XXI, MIM# 301132
Tags
Amber Amber List (moderate evidence)
ARID1A
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Coffin-Siris syndrome 2 #614607
Tags
Amber Amber List (moderate evidence)
CNOT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Tags
Amber Amber List (moderate evidence)
PLCH1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Holoprosencephaly 14, MIM# 619895
Tags
Amber Amber List (moderate evidence)
PRDM15
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
Disease associations
  • Holoprosenephaly
  • Steroid resistant nephrotic syndrome
  • Multiple congenital anomalies
Tags
Amber Amber List (moderate evidence)
SOX2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Optic nerve hypoplasia and abnormalities of the central nervous system #206900
  • Microphthalmia, syndromic 3 #206900
Tags
Amber Amber List (moderate evidence)
STIL
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Microcephaly 7, primary, autosomal recessive, MIM# 612703
Tags
Red Red List (low evidence)
CRIPTO
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Congenital nervous system disorder, MONDO:0002320, TDGF1-related
Tags
  • disputed
Red Red List (low evidence)
DLL1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Tags
Red Red List (low evidence)
GAS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Holoprosencephaly
Tags
Red Red List (low evidence)
GLI3
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Pallister-Hall syndrome, MIM# 146510
Tags
Red Red List (low evidence)
NODAL
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 5 (MIM#270100)
Tags
  • disputed
Red Red List (low evidence)
SCN7A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Holoprosencephaly
Tags

Downloads

Download lists

Download Version